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NM_001617.4(ADD2):c.812G>A (p.Arg271Gln) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 23, 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:
RCV004376147.1

Allele description [Variation Report for NM_001617.4(ADD2):c.812G>A (p.Arg271Gln)]

NM_001617.4(ADD2):c.812G>A (p.Arg271Gln)

Gene:
ADD2:adducin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p13.3
Genomic location:
Preferred name:
NM_001617.4(ADD2):c.812G>A (p.Arg271Gln)
HGVS:
  • NC_000002.12:g.70690823C>T
  • NG_029481.2:g.82421G>A
  • NM_001185054.2:c.812G>A
  • NM_001185055.2:c.860G>A
  • NM_001617.4:c.812G>AMANE SELECT
  • NM_017482.4:c.812G>A
  • NM_017488.4:c.812G>A
  • NP_001171983.1:p.Arg271Gln
  • NP_001171984.1:p.Arg287Gln
  • NP_001608.1:p.Arg271Gln
  • NP_059516.2:p.Arg271Gln
  • NP_059522.1:p.Arg271Gln
  • NC_000002.11:g.70917955C>T
  • NM_001617.3:c.812G>A
Protein change:
R271Q
Molecular consequence:
  • NM_001185054.2:c.812G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001185055.2:c.860G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001617.4:c.812G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017482.4:c.812G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017488.4:c.812G>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
SCV004856594Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 23, 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, SCV004856594.1

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

Description

The c.812G>A (p.R271Q) alteration is located in exon 8 (coding exon 6) of the ADD2 gene. This alteration results from a G to A substitution at nucleotide position 812, causing the arginine (R) at amino acid position 271 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: May 7, 2024