NM_000546.5(TP53):c.412G>C (p.Ala138Pro)

NM_000546.5(TP53):c.412G>C (p.Ala138Pro)

Variant type:
single nucleotide variant
Cytogenetic location:
17p13
Genomic location:
  • Chr17:7675200 (on Assembly GRCh38)
  • Chr17:7578518 (on Assembly GRCh37)
Protein change:
A138P, A6P, A99P
HGVS:
  • NG_017013.2:g.17351G>C
  • NM_001126115.1:c.16G>C
  • NM_001126116.1:c.16G>C
  • NM_001126117.1:c.16G>C
  • NM_001126118.1:c.295G>C
  • NM_000546.5:c.412G>C
  • NM_001126112.2:c.412G>C
  • NM_001126113.2:c.412G>C
  • NM_001126114.2:c.412G>C
  • NC_000017.11:g.7675200C>G (GRCh38)
  • NP_000537.3:p.Ala138Pro
  • NP_001119584.1:p.Ala138Pro
  • NP_001119585.1:p.Ala138Pro
  • NP_001119586.1:p.Ala138Pro
  • NP_001119587.1:p.Ala6Pro
  • NP_001119588.1:p.Ala6Pro
  • NP_001119589.1:p.Ala6Pro
  • NP_001119590.1:p.Ala99Pro
  • LRG_321t5:c.16G>C
  • LRG_321t6:c.16G>C
  • LRG_321t7:c.16G>C
  • LRG_321t8:c.295G>C
  • LRG_321t1:c.412G>C
  • LRG_321t2:c.412G>C
  • LRG_321t3:c.412G>C
  • LRG_321t4:c.412G>C
  • NC_000017.10:g.7578518C>G (GRCh37)
  • LRG_321p1:p.Ala138Pro
  • LRG_321p3:p.Ala138Pro
  • LRG_321p4:p.Ala138Pro
  • LRG_321p5:p.Ala6Pro
  • LRG_321p6:p.Ala6Pro
  • LRG_321p7:p.Ala6Pro
  • LRG_321p8:p.Ala99Pro
  • LRG_321:g.17351G>C
Links:
NCBI 1000 Genomes Browser:
rs28934875
Molecular consequence:
  • NM_000546.5:c.412G>C: missense variant SO:0001583
  • NM_001276697.1:c.-66G>C: 5 prime UTR variant SO:0001623

Clinical significance

NM_000546.5(TP53):c.412G>C (p.Ala138Pro)

Clinical significance:
Pathogenic
Review status:
(0/4)0 stars out of maximum of 4 stars
no assertion criteria provided
Number of submission(s):
1
Condition(s)
See supporting ClinVar records

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study name
(Last submitted)
Submission accession
Pathogenic
(Dec 6, 2013)
no assertion criteria providedliterature onlygermlinePubMed (1)
[See all records that cite this PMID]
OMIM

(Dec 30, 2010)

SCV000033422
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providedPubMednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription
OMIMgermlinenot providedLi-Fraumeni syndrome 1 (not provided)not providednot providedPubMedIn a family with Li-Fraumeni syndrome-1 (151623), Sedlacek et al. (1998) detected a change of codon 138 from GCC (ala) to CCC (pro) (A138P). The famil…Full description

Last Updated: Jul 1, 2015