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NM_001316349.2(THSD7B):c.2891G>A (p.Arg964His) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 10, 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:
RCV004167475.1

Allele description [Variation Report for NM_001316349.2(THSD7B):c.2891G>A (p.Arg964His)]

NM_001316349.2(THSD7B):c.2891G>A (p.Arg964His)

Gene:
THSD7B:thrombospondin type 1 domain containing 7B [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q22.1
Genomic location:
Preferred name:
NM_001316349.2(THSD7B):c.2891G>A (p.Arg964His)
Other names:
NM_001080427.1:c.2798G>A
HGVS:
  • NC_000002.12:g.137411804G>A
  • NM_001316349.2:c.2891G>AMANE SELECT
  • NP_001303278.1:p.Arg964His
  • NC_000002.11:g.138169374G>A
Protein change:
R964H
Molecular consequence:
  • NM_001316349.2:c.2891G>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
SCV003664252Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 10, 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, SCV003664252.2

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

Description

The c.2798G>A (p.R933H) alteration is located in exon 13 (coding exon 13) of the THSD7B gene. This alteration results from a G to A substitution at nucleotide position 2798, causing the arginine (R) at amino acid position 933 to be replaced by a histidine (H). 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