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NM_006110.3(CD2BP2):c.386G>A (p.Arg129Gln) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 2, 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:
RCV004128534.1

Allele description [Variation Report for NM_006110.3(CD2BP2):c.386G>A (p.Arg129Gln)]

NM_006110.3(CD2BP2):c.386G>A (p.Arg129Gln)

Gene:
CD2BP2:CD2 cytoplasmic tail binding protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p11.2
Genomic location:
Preferred name:
NM_006110.3(CD2BP2):c.386G>A (p.Arg129Gln)
HGVS:
  • NC_000016.10:g.30353790C>T
  • NM_001243646.2:c.386G>A
  • NM_006110.3:c.386G>AMANE SELECT
  • NP_001230575.1:p.Arg129Gln
  • NP_006101.1:p.Arg129Gln
  • NC_000016.9:g.30365111C>T
  • NM_006110.2:c.386G>A
  • NR_024465.1:n.639G>A
Protein change:
R129Q
Molecular consequence:
  • NM_001243646.2:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006110.3:c.386G>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
SCV003602456Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 2, 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, SCV003602456.2

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

Description

The c.386G>A (p.R129Q) alteration is located in exon 5 (coding exon 4) of the CD2BP2 gene. This alteration results from a G to A substitution at nucleotide position 386, causing the arginine (R) at amino acid position 129 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: Nov 10, 2024