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]

Variant: NM_004360.5(CDH1):c.2204C>T (p.Ala735Val)

CA294397

142435 (ClinVar)

Gene: CDH1
Condition: CDH1-related diffuse gastric and lobular breast cancer
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 6ecb1d55-19bb-49a0-a4e6-657f437d2688
Approved on: 2024-03-25
Published on: 2024-03-27

HGVS expressions

NM_004360.5:c.2204C>T
NM_004360.5(CDH1):c.2204C>T (p.Ala735Val)
NC_000016.10:g.68828213C>T
CM000678.2:g.68828213C>T
NC_000016.9:g.68862116C>T
CM000678.1:g.68862116C>T
NC_000016.8:g.67419617C>T
NG_008021.1:g.95922C>T
ENST00000261769.10:c.2204C>T
ENST00000261769.9:c.2204C>T
ENST00000422392.6:c.2021C>T
ENST00000562118.1:n.422C>T
ENST00000562836.5:n.2275C>T
ENST00000566510.5:c.*870C>T
ENST00000566612.5:c.*444C>T
ENST00000611625.4:c.2267C>T
ENST00000612417.4:c.1853+1659C>T
ENST00000621016.4:c.1866-5990C>T
NM_004360.3:c.2204C>T
NM_001317184.1:c.2021C>T
NM_001317185.1:c.656C>T
NM_001317186.1:c.239C>T
NM_004360.4:c.2204C>T
NM_001317184.2:c.2021C>T
NM_001317185.2:c.656C>T
NM_001317186.2:c.239C>T
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Likely Benign

Met criteria codes 1
BS2
Not Met criteria codes 2
PM2 BS1

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specification: ClinGen CDH1 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 3.1

PDF
Criteria Specification Approval History
Criteria Specifications for this VCEP
Evidence submitted by expert panel
CDH1 VCEP
The NM_004360.5(CDH1):c.2204C>T (p.Ala735Val) is missense variant. The variant has been observed in >10 (188) individuals without a diagnosis of diffuse gastric cancer, signet ring tumor or lobular breast cancer and whose family histories do not suggest HDGC (BS2; PMID: 26898890; ClinVar: SCVs: SCV000186555.7, SCV000260700.10, SCV000210926.16; internal lab contributors). CDH1-VCEP recommended a variant to reach likely benign classification based on BS2 alone. Therefore, the clinical significance of this variant is likely benign. ACMG/AMP criteria applied, as specified by the CDH1 Variant Curation Expert Panel (Variant Interpretation Guidelines Version 3.1): BS2.
Met criteria codes
BS2
This variant has been observed in more than 10 (188) individuals w/o GC, DGC, gSRC tumors, or LBC & whose families do not suggest HDGC. (BS2; PMID: 26898890; ClinVar: SCVs: SCV000186555.7, SCV000260700.10, SCV000210926.16; internal lab contributors).
Not Met criteria codes
PM2
The allele frequency in gnomAD v2.1.1 is 8/282,840 (0.003%).
BS1
The allele frequency in gnomAD v2.1.1 is 8/282,840 (0.003%).
Curation History
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