The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

  • See Evidence submitted by expert panel for details.

Variant: NM_001126112.2(TP53):c.636del (p.Arg213fs)

CA248848

218342 (ClinVar)

Gene: TP53
Condition: Li-Fraumeni syndrome 1
Inheritance Mode: Autosomal dominant inheritance
UUID: 43ea40bf-abe3-4125-8861-85030e6c815c

HGVS expressions

NM_001126112.2:c.636del
NM_001126112.2(TP53):c.636del (p.Arg213fs)
ENST00000269305.9:c.636del
ENST00000269305.8:c.636del
ENST00000359597.8:n.636del
ENST00000413465.6:n.636del
ENST00000420246.6:c.636del
ENST00000445888.6:c.636del
ENST00000455263.6:c.636del
ENST00000504290.5:c.240del
ENST00000504937.5:c.240del
ENST00000505014.5:n.892del
ENST00000509690.5:c.240del
ENST00000510385.5:c.240del
ENST00000514944.5:c.357del
ENST00000574684.1:n.67+158del
ENST00000610292.4:c.519del
ENST00000610538.4:c.519del
ENST00000610623.4:c.159del
ENST00000615910.4:n.603del
ENST00000617185.4:c.636del
ENST00000618944.4:c.159del
ENST00000619186.4:c.159del
ENST00000619485.4:c.519del
ENST00000620739.4:c.519del
ENST00000622645.4:c.519del
ENST00000635293.1:c.519del
NM_000546.5:c.636del
NM_001126113.2:c.636del
NM_001126114.2:c.636del
NM_001126115.1:c.240del
NM_001126116.1:c.240del
NM_001126117.1:c.240del
NM_001126118.1:c.519del
NM_001276695.1:c.519del
NM_001276696.1:c.519del
NM_001276697.1:c.159del
NM_001276698.1:c.159del
NM_001276699.1:c.159del
NM_001276760.1:c.519del
NM_001276761.1:c.519del
NM_001276695.2:c.519del
NM_001276696.2:c.519del
NM_001276697.2:c.159del
NM_001276698.2:c.159del
NM_001276699.2:c.159del
NM_001276760.2:c.519del
NM_001276761.2:c.519del
NM_000546.6:c.636del
NM_001126112.3:c.636del
NM_001126113.3:c.636del
NM_001126114.3:c.636del
NM_001126115.2:c.240del
NM_001126116.2:c.240del
NM_001126117.2:c.240del
NM_001126118.2:c.519del
NM_001276695.3:c.519del
NM_001276696.3:c.519del
NM_001276697.3:c.159del
NM_001276698.3:c.159del
NM_001276699.3:c.159del
NM_001276760.3:c.519del
NM_001276761.3:c.519del
NC_000017.11:g.7674898del
CM000679.2:g.7674898del
NC_000017.10:g.7578216del
CM000679.1:g.7578216del
NC_000017.9:g.7518941del
NG_017013.2:g.17656del

Pathogenic

Met criteria codes 3
PM2_Supporting PS4_Supporting PVS1
Not Met criteria codes 4
PP1 BA1 BS2 BS1

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
TP53 VCEP
The p.R213fs variant is predicted to result in a premature stop codon that leads to a truncated or absent protein (PVS1). This variant is absent in the gnomAD cohort (PM2_Supporting; http://gnomad.broadinstitute.org). This variant has been reported in 2 probands meeting Chompret criteria (PS4_Supporting; PMID: 11370630, NIH). In summary, TP53 c.636del (p.R213fs) meets criteria to be classified as pathogenic for Li-Fraumeni syndrome. ACMG/AMP criteria applied, as specified by the TP53 Variant Curation Expert Panel: PVS1, PM2_Supporting, PS4_Supporting.
Met criteria codes
PM2_Supporting
Absent from gnomAD (non-cancer). Supporting per VCEP
PS4_Supporting
NIH cohort: Chompret (0.5 pts); PMID 11370630: Chompret (0.5 pts) Total = 1 pts.
PVS1
Frameshift in exon 6 of 11 in core/DNA-binding domain
Not Met criteria codes
PP1
2 meioses in one family. Need 3+ to count.
BA1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS2
Absent from FLOSSIES. Internal lab data not provided for evaluation.
BS1
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
Approved on: 2020-09-04
Published on: 2021-06-16
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