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NM_001304947.3(KRBA2):c.1068G>C (p.Glu356Asp) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 11, 2024
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:
RCV004412102.1

Allele description [Variation Report for NM_001304947.3(KRBA2):c.1068G>C (p.Glu356Asp)]

NM_001304947.3(KRBA2):c.1068G>C (p.Glu356Asp)

Gene:
KRBA2:KRAB-A domain containing 2 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_001304947.3(KRBA2):c.1068G>C (p.Glu356Asp)
HGVS:
  • NC_000017.11:g.8369299C>G
  • NM_001304947.3:c.1068G>CMANE SELECT
  • NM_213597.3:c.1314G>C
  • NP_001291876.1:p.Glu356Asp
  • NP_998762.1:p.Glu438Asp
  • NC_000017.10:g.8272617C>G
  • NM_213597.2:c.1314G>C
Protein change:
E356D
Molecular consequence:
  • NM_001304947.3:c.1068G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_213597.3:c.1314G>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
SCV004896324Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 11, 2024) 		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, SCV004896324.1

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

Description

The c.1314G>C (p.E438D) alteration is located in exon 2 (coding exon 2) of the KRBA2 gene. This alteration results from a G to C substitution at nucleotide position 1314, causing the glutamic acid (E) at amino acid position 438 to be replaced by an aspartic acid (D). 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