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NM_006832.3(FERMT2):c.460A>C (p.Lys154Gln) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 27, 2021
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:
RCV004391821.1

Allele description [Variation Report for NM_006832.3(FERMT2):c.460A>C (p.Lys154Gln)]

NM_006832.3(FERMT2):c.460A>C (p.Lys154Gln)

Gene:
FERMT2:FERM domain containing kindlin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q22.1
Genomic location:
Preferred name:
NM_006832.3(FERMT2):c.460A>C (p.Lys154Gln)
HGVS:
  • NC_000014.9:g.52893359T>G
  • NM_001134999.2:c.460A>C
  • NM_001135000.2:c.460A>C
  • NM_006832.3:c.460A>CMANE SELECT
  • NP_001128471.1:p.Lys154Gln
  • NP_001128472.1:p.Lys154Gln
  • NP_006823.1:p.Lys154Gln
  • NC_000014.8:g.53360077T>G
  • NM_001134999.1:c.460A>C
Protein change:
K154Q
Molecular consequence:
  • NM_001134999.2:c.460A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001135000.2:c.460A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006832.3:c.460A>C - 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
SCV004867884Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 27, 2021) 		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, SCV004867884.1

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

Description

The c.460A>C (p.K154Q) alteration is located in exon 4 (coding exon 3) of the FERMT2 gene. This alteration results from a A to C substitution at nucleotide position 460, causing the lysine (K) at amino acid position 154 to be replaced by a glutamine (Q). 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