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NM_001114123.3(ELK1):c.538G>A (p.Val180Met) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 20, 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:
RCV004320472.1

Allele description [Variation Report for NM_001114123.3(ELK1):c.538G>A (p.Val180Met)]

NM_001114123.3(ELK1):c.538G>A (p.Val180Met)

Gene:
ELK1:ETS transcription factor ELK1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.23
Genomic location:
Preferred name:
NM_001114123.3(ELK1):c.538G>A (p.Val180Met)
HGVS:
  • NC_000023.11:g.47639011C>T
  • NG_009222.1:g.16594G>A
  • NM_001114123.3:c.538G>AMANE SELECT
  • NM_001257168.1:c.270+268G>A
  • NM_005229.4:c.538G>A
  • NP_001107595.1:p.Val180Met
  • NP_005220.2:p.Val180Met
  • NC_000023.10:g.47498410C>T
  • NM_005229.3:c.538G>A
Protein change:
V180M
Molecular consequence:
  • NM_001257168.1:c.270+268G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001114123.3:c.538G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005229.4:c.538G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003970238Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 20, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003970238.2

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

Description

The c.538G>A (p.V180M) alteration is located in exon 3 (coding exon 2) of the ELK1 gene. This alteration results from a G to A substitution at nucleotide position 538, causing the valine (V) at amino acid position 180 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 3, 2024