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NM_080927.4(DCBLD2):c.2134G>A (p.Val712Met) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 16, 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:
RCV004175873.1

Allele description [Variation Report for NM_080927.4(DCBLD2):c.2134G>A (p.Val712Met)]

NM_080927.4(DCBLD2):c.2134G>A (p.Val712Met)

Gene:
DCBLD2:discoidin, CUB and LCCL domain containing 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q12.1
Genomic location:
Preferred name:
NM_080927.4(DCBLD2):c.2134G>A (p.Val712Met)
HGVS:
  • NC_000003.12:g.98799566C>T
  • NM_080927.4:c.2134G>AMANE SELECT
  • NP_563615.3:p.Val712Met
  • NC_000003.11:g.98518410C>T
  • NM_080927.3:c.2134G>A
Protein change:
V712M
Molecular consequence:
  • NM_080927.4:c.2134G>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
SCV003667055Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 16, 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, SCV003667055.2

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

Description

The c.2134G>A (p.V712M) alteration is located in exon 16 (coding exon 16) of the DCBLD2 gene. This alteration results from a G to A substitution at nucleotide position 2134, causing the valine (V) at amino acid position 712 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: Nov 3, 2024