Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
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Variant: NM_004360.5(CDH1):c.1223C>T (p.Ala408Val)

CA288022

127908 (ClinVar)

Gene: CDH1
Condition: CDH1-related diffuse gastric and lobular breast cancer
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: de121013-db34-4461-8027-65ef657a9e2a
Approved on: 2023-08-10
Published on: 2023-08-10

HGVS expressions

NM_004360.5:c.1223C>T
NM_004360.5(CDH1):c.1223C>T (p.Ala408Val)
NC_000016.10:g.68813398C>T
CM000678.2:g.68813398C>T
NC_000016.9:g.68847301C>T
CM000678.1:g.68847301C>T
NC_000016.8:g.67404802C>T
NG_008021.1:g.81107C>T
ENST00000261769.10:c.1223C>T
ENST00000261769.9:c.1223C>T
ENST00000422392.6:c.1137+1135C>T
ENST00000562836.5:n.1294C>T
ENST00000565810.1:n.267C>T
ENST00000566510.5:c.1067C>T
ENST00000566612.5:c.1223C>T
ENST00000611625.4:c.1223C>T
ENST00000612417.4:c.1223C>T
ENST00000621016.4:c.1223C>T
NM_004360.3:c.1223C>T
NM_001317184.1:c.1137+1135C>T
NM_001317185.1:c.-393C>T
NM_001317186.1:c.-597C>T
NM_004360.4:c.1223C>T
NM_001317184.2:c.1137+1135C>T
NM_001317185.2:c.-393C>T
NM_001317186.2:c.-597C>T
More

Benign

Met criteria codes 2
BS2 BS1
Not Met criteria codes 24
PVS1 BS4 BS3 BP3 BP2 BP4 BP1 BP7 BP5 PS2 PS3 PS4 PS1 PM6 PM2 PM5 PM4 PM3 PM1 BA1 PP1 PP4 PP3 PP2

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
CDH1 VCEP
The c.1223C>T (p.Ala408Val) missense variant has a frequency of 0.114% (>0.1%) in South Asians (35 of 30616 alleles) in the gnomAD v2.1.1 cohort (BS1). This variant has been observed in ≥10 (122) individuals without DGC, SRC tumours or LBC and whose families do not suggest HDGC (BS2; SCV000260430.7, SCV000186167.6). In summary, the clinical significance of this variant is classified as of benign based the ACMG/AMP criteria applied, as specified by the CDH1 Variant Curation Expert Panel (Variant Interpretation Guidelines Version 3.1): BS1, BS2.
Met criteria codes
BS2
Observed in 122 individuals without HDGC phenotypes (SCV000260430.7, SCV000186167.6).
BS1
gnomAD 2.1.1 = 35 of 30616 alleles (0.114%) in South Asians. MAF > 0.1%. gnomAD 3.1 = 3 of 4822 alleles (0.06221%) in South Asians.
Not Met criteria codes
PVS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP7
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BP5
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS4
PS4 cannot be applied to variants that meet BS1 or BA1.
PS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM6
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM5
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BA1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
Curation History
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