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NM_001039570.3(KREMEN1):c.791G>A (p.Arg264Lys) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 9, 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:
RCV002713632.2

Allele description [Variation Report for NM_001039570.3(KREMEN1):c.791G>A (p.Arg264Lys)]

NM_001039570.3(KREMEN1):c.791G>A (p.Arg264Lys)

Gene:
KREMEN1:kringle containing transmembrane protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q12.1
Genomic location:
Preferred name:
NM_001039570.3(KREMEN1):c.791G>A (p.Arg264Lys)
HGVS:
  • NC_000022.11:g.29137501G>A
  • NG_052986.1:g.69424G>A
  • NM_001039570.3:c.791G>AMANE SELECT
  • NM_001039571.1:c.791G>A
  • NM_032045.5:c.791G>A
  • NP_001034659.2:p.Arg264Lys
  • NP_001034660.1:p.Arg264Lys
  • NP_114434.3:p.Arg264Lys
  • NC_000022.10:g.29533489G>A
  • NM_032045.4:c.791G>A
Protein change:
R264K
Molecular consequence:
  • NM_001039570.3:c.791G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001039571.1:c.791G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032045.5:c.791G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003558128Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 9, 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, SCV003558128.2

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

Description

The c.791G>A (p.R264K) alteration is located in exon 6 (coding exon 6) of the KREMEN1 gene. This alteration results from a G to A substitution at nucleotide position 791, causing the arginine (R) at amino acid position 264 to be replaced by a lysine (K). 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 1, 2024