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]
Link to SEPIO compliant JSON-LD document
  • See Evidence submitted by expert panel for details.

Variant: NM_000546.6(TP53):c.85_87AAC[1] (p.Asn30del)

CA358484

142158 (ClinVar)

Gene: TP53
Condition: Li-Fraumeni syndrome 1
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 7d2cb855-34af-45fd-82a4-737b107f9814

HGVS expressions

NM_000546.6:c.85_87AAC[1]
NM_000546.6(TP53):c.85_87AAC[1] (p.Asn30del)
ENST00000269305.9:c.88_90del
ENST00000269305.8:c.88_90del
ENST00000359597.8:n.88_90del
ENST00000413465.6:n.88_90del
ENST00000420246.6:c.88_90del
ENST00000445888.6:c.88_90del
ENST00000455263.6:c.88_90del
ENST00000503591.1:c.88_90del
ENST00000505014.5:n.344_346del
ENST00000508793.5:c.88_90del
ENST00000509690.5:c.-21-1154_-21-1152del
ENST00000514944.5:c.88_90del
ENST00000604348.5:c.88_90del
ENST00000610292.4:c.-30_-28del
ENST00000610538.4:c.-30_-28del
ENST00000615910.4:n.88_90del
ENST00000617185.4:c.88_90del
ENST00000619485.4:c.-30_-28del
ENST00000620739.4:c.-30_-28del
ENST00000622645.4:c.-30_-28del
ENST00000635293.1:c.-30_-28del
NM_000546.5:c.88_90del
NM_001126112.2:c.88_90del
NM_001126113.2:c.88_90del
NM_001126114.2:c.88_90del
NM_001126118.1:c.-30_-28del
NM_001276695.1:c.-30_-28del
NM_001276696.1:c.-30_-28del
NM_001276760.1:c.-30_-28del
NM_001276761.1:c.-30_-28del
NM_001276695.2:c.-30_-28del
NM_001276696.2:c.-30_-28del
NM_001276760.2:c.-30_-28del
NM_001276761.2:c.-30_-28del
NM_000546.6:c.88_90del
NM_001126112.3:c.88_90del
NM_001126113.3:c.88_90del
NM_001126114.3:c.88_90del
NM_001126118.2:c.-30_-28del
NM_001276695.3:c.-30_-28del
NM_001276696.3:c.-30_-28del
NM_001276760.3:c.-30_-28del
NM_001276761.3:c.-30_-28del
NC_000017.11:g.7676391_7676393del
CM000679.2:g.7676391_7676393del
NC_000017.10:g.7579709_7579711del
CM000679.1:g.7579709_7579711del
NC_000017.9:g.7520434_7520436del
NG_017013.2:g.16161_16163del

Uncertain Significance

Met criteria codes 2
BS2_Supporting PS4_Supporting
Not Met criteria codes 18
PS2 PS3 BP5 BP2 BP4 BP1 PP4 PP1 PP3 PP2 BA1 PM6 PM2 PM3 PM1 BS4 BS3 BS1

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
TP53 VCEP
This variant has been observed in 2-7 60+ year old females without a cancer diagnosis (BS2; internal laboratory contributor). This variant has been reported in 2 probands meeting Chompret criteria (PS4_Supporting; internal laboratory contributors). In summary, the clinical significance of TP53 c.85_87AAC[1] (p.Asn30del) is uncertain for Li-Fraumeni syndrome. ACMG/AMP criteria applied, as specified by the TP53 Variant Curation Expert Panel: PS4_Supporting, BS2.
Met criteria codes
BS2_Supporting
Identified in 3 60+ females with no cancer from one clinical lab.
PS4_Supporting
One patient meeting Chompret from Invitae (0.5 points) and 1 patient meeting Chompret from GeneDx (0.5 points). 1 proband point.
Not Met criteria codes
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
BP5
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
PP4
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
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
BA1
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
1 allele in gnomAD non-cancer dataset
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
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
BS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
Approved on: 2021-04-30
Published on: 2021-06-16
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