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NM_001982.4(ERBB3):c.4009G>A (p.Ala1337Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 24, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003323478.2

Allele description [Variation Report for NM_001982.4(ERBB3):c.4009G>A (p.Ala1337Thr)]

NM_001982.4(ERBB3):c.4009G>A (p.Ala1337Thr)

Gene:
ERBB3:erb-b2 receptor tyrosine kinase 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.2
Genomic location:
Preferred name:
NM_001982.4(ERBB3):c.4009G>A (p.Ala1337Thr)
HGVS:
  • NC_000012.12:g.56102035G>A
  • NG_011529.1:g.26928G>A
  • NM_001982.4:c.4009G>AMANE SELECT
  • NP_001973.2:p.Ala1337Thr
  • NP_001973.2:p.Ala1337Thr
  • LRG_996t1:c.4009G>A
  • LRG_996:g.26928G>A
  • LRG_996p1:p.Ala1337Thr
  • NC_000012.11:g.56495819G>A
  • NM_001982.2:c.4009G>A
  • NM_001982.3:c.4009G>A
Protein change:
A1337T; ALA1337THR
Links:
OMIM: 190151.0002; dbSNP: rs755855285
NCBI 1000 Genomes Browser:
rs755855285
Molecular consequence:
  • NM_001982.4:c.4009G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004029356Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Uncertain significance
(Jul 24, 2023)
germlineclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

A germline ERBB3 variant is a candidate for predisposition to erythroid MDS/erythroleukemia.

Braunstein EM, Li R, Sobreira N, Marosy B, Hetrick K, Doheny K, Gocke CD, Valle D, Brodsky RA, Cheng L.

Leukemia. 2016 Nov;30(11):2242-2245. doi: 10.1038/leu.2016.173. Epub 2016 Jun 15. No abstract available.

PubMed [citation]
PMID:
27416908
PMCID:
PMC5093022

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004029356.1

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

Description

Variant summary: ERBB3 c.4009G>A (p.Ala1337Thr) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00011 in 247050 control chromosomes (gnomAD). To our knowledge, c.4009G>A has not been reported in the literature in individuals affected with Lethal congenital contracture syndrome 2. At least one publication reports experimental evidence evaluating an impact on protein function, however, does not allow convincing conclusions about the variant effect (example: Braunstein_2016). The following publication has been ascertained in the context of this evaluation (PMID: 27416908). Based on the evidence outlined above, the variant was classified as uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 3, 2023