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NM_004447.6(EPS8):c.2113G>A (p.Ala705Thr) AND not specified

Germline classification:
Benign (2 submissions)
Last evaluated:
Nov 30, 2017
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000606854.9

Allele description [Variation Report for NM_004447.6(EPS8):c.2113G>A (p.Ala705Thr)]

NM_004447.6(EPS8):c.2113G>A (p.Ala705Thr)

Gene:
EPS8:EGFR pathway substrate 8, signaling adaptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p12.3
Genomic location:
Preferred name:
NM_004447.6(EPS8):c.2113G>A (p.Ala705Thr)
HGVS:
  • NC_000012.12:g.15624339C>T
  • NG_041808.1:g.170238G>A
  • NM_004447.6:c.2113G>AMANE SELECT
  • NP_004438.3:p.Ala705Thr
  • NC_000012.11:g.15777273C>T
  • NM_004447.5:c.2113G>A
  • p.Ala705Thr
Protein change:
A705T
Links:
dbSNP: rs78763451
NCBI 1000 Genomes Browser:
rs78763451
Molecular consequence:
  • NM_004447.6:c.2113G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000858228Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Benign
(Nov 30, 2017) 		germlineclinical testing

Citation Link,

SCV000967084Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Benign
(Aug 23, 2017) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Eurofins Ntd Llc (ga), SCV000858228.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000967084.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

p.Ala705Thr in exon 19 of EPS8: This variant is not expected to have clinical si gnificance because it has been identified in 0.92% (607/65806) of European chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs78763451).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Oct 20, 2024