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NM_001320714.2(DOP1B):c.823G>A (p.Val275Met) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 21, 2022
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:
RCV004384233.1

Allele description [Variation Report for NM_001320714.2(DOP1B):c.823G>A (p.Val275Met)]

NM_001320714.2(DOP1B):c.823G>A (p.Val275Met)

Gene:
DOP1B:DOP1 leucine zipper like protein B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.12
Genomic location:
Preferred name:
NM_001320714.2(DOP1B):c.823G>A (p.Val275Met)
HGVS:
  • NC_000021.9:g.36212016G>A
  • NM_001320714.2:c.823G>AMANE SELECT
  • NM_005128.4:c.823G>A
  • NP_001307643.1:p.Val275Met
  • NP_005119.2:p.Val275Met
  • NC_000021.8:g.37584314G>A
  • NM_005128.2:c.823G>A
Protein change:
V275M
Molecular consequence:
  • NM_001320714.2:c.823G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005128.4:c.823G>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
SCV004860573Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 21, 2022) 		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, SCV004860573.1

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

Description

The c.823G>A (p.V275M) alteration is located in exon 7 (coding exon 6) of the DOPEY2 gene. This alteration results from a G to A substitution at nucleotide position 823, causing the valine (V) at amino acid position 275 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: May 7, 2024