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_000546.5(TP53):c.214C>G (p.Pro72Ala)

CA000070

142854 (ClinVar)

Gene: TP53
Condition: Li-Fraumeni syndrome
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 3a7347e6-77f5-4cc5-a6d2-555e45cc238b
Approved on: 2021-04-12
Published on: 2021-06-16

HGVS expressions

NM_000546.5:c.214C>G
NM_000546.5(TP53):c.214C>G (p.Pro72Ala)
ENST00000269305.9:c.214C>G
ENST00000269305.8:c.214C>G
ENST00000359597.8:n.214C>G
ENST00000413465.6:n.214C>G
ENST00000420246.6:c.214C>G
ENST00000445888.6:c.214C>G
ENST00000455263.6:c.214C>G
ENST00000503591.1:c.214C>G
ENST00000505014.5:n.470C>G
ENST00000508793.5:c.214C>G
ENST00000509690.5:c.-21-919C>G
ENST00000514944.5:c.96+227C>G
ENST00000604348.5:c.214C>G
ENST00000610292.4:c.97C>G
ENST00000610538.4:c.97C>G
ENST00000615910.4:n.214C>G
ENST00000617185.4:c.214C>G
ENST00000619485.4:c.97C>G
ENST00000620739.4:c.97C>G
ENST00000622645.4:c.97C>G
ENST00000635293.1:c.97C>G
NM_001126112.2:c.214C>G
NM_001126113.2:c.214C>G
NM_001126114.2:c.214C>G
NM_001126118.1:c.97C>G
NM_001276695.1:c.97C>G
NM_001276696.1:c.97C>G
NM_001276760.1:c.97C>G
NM_001276761.1:c.97C>G
NM_001276695.2:c.97C>G
NM_001276696.2:c.97C>G
NM_001276760.2:c.97C>G
NM_001276761.2:c.97C>G
NM_000546.6:c.214C>G
NM_001126112.3:c.214C>G
NM_001126113.3:c.214C>G
NM_001126114.3:c.214C>G
NM_001126118.2:c.97C>G
NM_001276695.3:c.97C>G
NM_001276696.3:c.97C>G
NM_001276760.3:c.97C>G
NM_001276761.3:c.97C>G
NC_000017.11:g.7676155G>C
CM000679.2:g.7676155G>C
NC_000017.10:g.7579473G>C
CM000679.1:g.7579473G>C
NC_000017.9:g.7520198G>C
NG_017013.2:g.16396C>G

Uncertain Significance

Met criteria codes 1
BP4
Not Met criteria codes 20
BS2 BS4 BS3 BS1 PS2 PS4 PS3 PS1 BP2 BP1 BA1 PP4 PP1 PP3 PP2 PM6 PM2 PM3 PM1 PM5

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
TP53 VCEP
This is a polymorphic residue (alternate nomenclature: p.Arg72). BP4 (missense variants): This variant has a BayesDel score < 0.16 and Align GVGD (Zebrafish) is Class C0 or Class C15 (BP4). In summary, the clinical significance of TP53 c.214C>G (p.Pro72Ala) is uncertain for Li-Fraumeni syndrome. ACMG/AMP criteria applied, as specified by the TP53 Variant Curation Expert Panel: BP4.
Met criteria codes
BP4
Align GVGD Class C0, BayesDel -0.215412 no splicing effect (varSEAK, spliceAI)
Not Met criteria codes
BS2
1 female 60+ with no cancer (GeneDx internal data, no additional details provided) 1 female from Invitae internal data (pancreatic ca 80’s)
BS4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
BS3
Kato: 80.05 (functional/supertrans) Giacomelli: A549_p53WT_Nutlin-3_Z-score:-0.199 Etoposide_Z-score: -0.88
BS1
4 alleles in East Asian population in gnomAD v2
PS2
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS4
1 case meeting Chompret criteria (GeneDx internal data, no additional details provided)
PS3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PS1
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
BP1
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
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
PM6
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM2
4 East Asian alleles in gnomAD
PM3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PM1
Not in a hotspot codon, not in cancerhotspots.org
PM5
7 other variants at this codon in ClinVar, although all are B/LB/VUS and none are suspicious for pathogenicity
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.
¤ Powered by BCM's Genboree.