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NM_013234.4(EIF3K):c.7A>G (p.Met3Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 9, 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:
RCV004377805.1

Allele description [Variation Report for NM_013234.4(EIF3K):c.7A>G (p.Met3Val)]

NM_013234.4(EIF3K):c.7A>G (p.Met3Val)

Gene:
EIF3K:eukaryotic translation initiation factor 3 subunit K [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_013234.4(EIF3K):c.7A>G (p.Met3Val)
HGVS:
  • NC_000019.10:g.38619275A>G
  • NM_001300992.2:c.7A>G
  • NM_001308393.2:c.-245A>G
  • NM_013234.4:c.7A>GMANE SELECT
  • NP_001287921.1:p.Met3Val
  • NP_037366.1:p.Met3Val
  • NC_000019.9:g.39109915A>G
  • NM_013234.2:c.7A>G
Protein change:
M3V
Molecular consequence:
  • NM_001308393.2:c.-245A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001300992.2:c.7A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_013234.4:c.7A>G - 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
SCV004861634Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 9, 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, SCV004861634.1

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

Description

The c.7A>G (p.M3V) alteration is located in exon 1 (coding exon 1) of the EIF3K gene. This alteration results from a A to G substitution at nucleotide position 7, causing the methionine (M) at amino acid position 3 to be replaced by a valine (V). 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: May 7, 2024