NM_001100119.1(XRCC3):c.722C>T (p.Thr241Met)

Variation ID: Help
8944
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
risk factor
Last evaluated:
Oct 15, 2000
Number of submission(s):
1
Condition(s):
Cutaneous malignant melanoma 6[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_001100119.1(XRCC3):c.722C>T (p.Thr241Met)

Allele ID:
23983
Variant type:
single nucleotide variant
Cytogenetic location:
14q32.3
Genomic location:
  • Chr14: 103699416 (on Assembly GRCh38)
  • Chr14: 104165753 (on Assembly GRCh37)
Protein change:
T241M
HGVS:
  • NG_011516.1:g.21071C>T
  • NM_001100119.1:c.722C>T
  • NP_001093589.1:p.Thr241Met
  • NC_000014.9:g.103699416G>A (GRCh38)
  • NC_000014.8:g.104165753G>A (GRCh37)
  • O43542:p.Thr241Met
Links:
NCBI 1000 Genomes Browser:
rs861539
Molecular consequence:
NM_001100119.1:c.722C>T: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GO-ESP 0.32323 (A)
  • GMAF 0.21690 (A)
  • ExAC 0.30751 (A)

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
risk factor
(Oct 15, 2000)
no assertion criteria providedliterature onlygermlineOMIMSCV000029718.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Sep 6, 2017