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NM_173602.3(DIP2B):c.2041A>G (p.Ile681Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 3, 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:
RCV004373775.1

Allele description [Variation Report for NM_173602.3(DIP2B):c.2041A>G (p.Ile681Val)]

NM_173602.3(DIP2B):c.2041A>G (p.Ile681Val)

Gene:
DIP2B:disco interacting protein 2 homolog B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.12
Genomic location:
Preferred name:
NM_173602.3(DIP2B):c.2041A>G (p.Ile681Val)
HGVS:
  • NC_000012.12:g.50697168A>G
  • NG_021196.1:g.197184A>G
  • NM_173602.3:c.2041A>GMANE SELECT
  • NP_775873.2:p.Ile681Val
  • NC_000012.11:g.51090951A>G
  • NM_173602.2:c.2041A>G
Protein change:
I681V
Molecular consequence:
  • NM_173602.3:c.2041A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004856459Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 3, 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, SCV004856459.1

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

Description

The c.2041A>G (p.I681V) alteration is located in exon 17 (coding exon 17) of the DIP2B gene. This alteration results from a A to G substitution at nucleotide position 2041, causing the isoleucine (I) at amino acid position 681 to be replaced by a valine (V). 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