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NM_004447.6(EPS8):c.1102G>A (p.Val368Met) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 29, 2022
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:
RCV003238921.1

Allele description [Variation Report for NM_004447.6(EPS8):c.1102G>A (p.Val368Met)]

NM_004447.6(EPS8):c.1102G>A (p.Val368Met)

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.1102G>A (p.Val368Met)
HGVS:
  • NC_000012.12:g.15654293C>T
  • NG_041808.1:g.140284G>A
  • NG_041808.2:g.140095G>A
  • NM_001413831.1:c.1102G>A
  • NM_001413832.1:c.1102G>A
  • NM_001413833.1:c.1102G>A
  • NM_001413834.1:c.1102G>A
  • NM_001413835.1:c.862G>A
  • NM_001413836.1:c.862G>A
  • NM_001413837.1:c.685G>A
  • NM_001413838.1:c.322G>A
  • NM_001413839.1:c.1102G>A
  • NM_004447.6:c.1102G>AMANE SELECT
  • NP_001400760.1:p.Val368Met
  • NP_001400761.1:p.Val368Met
  • NP_001400762.1:p.Val368Met
  • NP_001400763.1:p.Val368Met
  • NP_001400764.1:p.Val288Met
  • NP_001400765.1:p.Val288Met
  • NP_001400766.1:p.Val229Met
  • NP_001400767.1:p.Val108Met
  • NP_001400768.1:p.Val368Met
  • NP_004438.3:p.Val368Met
  • NC_000012.11:g.15807227C>T
  • NM_004447.5:c.1102G>A
  • NR_182221.1:n.1214G>A
  • NR_182222.1:n.1435G>A
  • NR_182223.1:n.1351G>A
Protein change:
V108M
Molecular consequence:
  • NM_001413831.1:c.1102G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001413832.1:c.1102G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001413833.1:c.1102G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001413834.1:c.1102G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001413835.1:c.862G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001413836.1:c.862G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001413837.1:c.685G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001413838.1:c.322G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001413839.1:c.1102G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004447.6:c.1102G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003936667GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Dec 29, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV003936667.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

In silico analysis supports that this missense variant does not alter protein structure/function; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: May 1, 2024