NM_020975.4(RET):c.2410G>A (p.Val804Met) AND MEN2A and FMTC

Clinical significance:Pathogenic (Last evaluated: Dec 4, 2012)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000021852.1

Allele description [Variation Report for NM_020975.4(RET):c.2410G>A (p.Val804Met)]

NM_020975.4(RET):c.2410G>A (p.Val804Met)

Gene:
RET:ret proto-oncogene [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q11.21
Genomic location:
Preferred name:
NM_020975.4(RET):c.2410G>A (p.Val804Met)
HGVS:
  • NC_000010.11:g.43119548G>A
  • NG_007489.1:g.47480G>A
  • NM_020630.4:c.2410G>A
  • NM_020975.4:c.2410G>A
  • NP_065681.1:p.Val804Met
  • NP_066124.1:p.Val804Met
  • LRG_518t1:c.2410G>A
  • LRG_518t2:c.2410G>A
  • LRG_518:g.47480G>A
  • LRG_518p1:p.Val804Met
  • LRG_518p2:p.Val804Met
  • NC_000010.10:g.43614996G>A
  • P07949:p.Val804Met
Protein change:
V804M; VAL804MET
Links:
UniProtKB: P07949#VAR_006337; OMIM: 164761.0043; dbSNP: 79658334
NCBI 1000 Genomes Browser:
rs79658334
Allele Frequency:
0.0001, GO-ESP
Molecular consequence:
  • NM_020975.4:c.2410G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
MEN2A and FMTC
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000042518ARUP Institute,ARUP Laboratoriesno assertion criteria providedPathogenic
(Dec 4, 2012)
not providedclinical testing

PubMed (1)
[See all records that cite this PMID]

Description

6 yr old had metastatic MTC. V804M may have variable penetrance (PMID 10876191 and 11114642). Reports of homozygous mutation (PMID 12019403 and 15741265). Reports of CLA and CNT (PMID 20497437 and 19445625). Additional references: PMID 17316110, 19958926, 17466010 and 9452077. Has been found with other RET sequence changes, see entries for codons 768 (c.2304G>T), 778, 805, 806, 844 (c.2531G>T), and 904 (c.2711C>G).

SCV000042518

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedclinical testing

Citations

Details of each submission

From ARUP Institute,ARUP Laboratories, SCV000042518.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Converted during submission to pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2017