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NM_015681.6(B9D1):c.473-81G>A AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 31, 2017
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:
RCV000497755.1

Allele description [Variation Report for NM_015681.6(B9D1):c.473-81G>A]

NM_015681.6(B9D1):c.473-81G>A

Gene:
B9D1:B9 domain containing 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_015681.6(B9D1):c.473-81G>A
HGVS:
  • NC_000017.11:g.19343542C>T
  • NG_031885.2:g.39652G>A
  • NM_001321214.2:c.481G>A
  • NM_001321215.3:c.*168G>A
  • NM_001321217.2:c.472+248G>A
  • NM_001321218.2:c.472+248G>A
  • NM_001321219.2:c.404+3727G>A
  • NM_001330149.2:c.473-47G>A
  • NM_001368769.2:c.112+248G>A
  • NM_015681.6:c.473-81G>AMANE SELECT
  • NP_001308143.1:p.Ala161Thr
  • LRG_686t1:c.473-81G>A
  • LRG_686:g.39652G>A
  • NC_000017.10:g.19246855C>T
  • NM_015681.3:c.473-81G>A
Protein change:
A161T
Links:
dbSNP: rs145712777
NCBI 1000 Genomes Browser:
rs145712777
Molecular consequence:
  • NM_001321215.3:c.*168G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001321217.2:c.472+248G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001321218.2:c.472+248G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001321219.2:c.404+3727G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330149.2:c.473-47G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368769.2:c.112+248G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_015681.6:c.473-81G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001321214.2:c.481G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000589409GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(May 31, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000589409.3

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

Description

The A161T variant in the B9D1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A161T variant is observed in 31/4064 (0.8%) alleles from individuals of East Asian background, in the ExAC dataset (Lek et al., 2016). The A161T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is not conserved. In silico analysis predicts this variant likely does not alter the protein structure/function. We interpret A161T as a variant of uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023