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NM_000552.5(VWF):c.3292G>A (p.Ala1098Thr) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 8, 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:
RCV002465970.1

Allele description [Variation Report for NM_000552.5(VWF):c.3292G>A (p.Ala1098Thr)]

NM_000552.5(VWF):c.3292G>A (p.Ala1098Thr)

Gene:
VWF:von Willebrand factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p13.31
Genomic location:
Preferred name:
NM_000552.5(VWF):c.3292G>A (p.Ala1098Thr)
HGVS:
  • NC_000012.12:g.6023718C>T
  • NG_009072.2:g.105953G>A
  • NM_000552.5:c.3292G>AMANE SELECT
  • NP_000543.3:p.Ala1098Thr
  • LRG_587t1:c.3292G>A
  • LRG_587:g.105953G>A
  • LRG_587p1:p.Ala1098Thr
  • NC_000012.11:g.6132884C>T
  • NM_000552.4:c.3292G>A
Protein change:
A1098T
Molecular consequence:
  • NM_000552.5:c.3292G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002760215MVZ Dr. Eberhard & Partner Dortmund
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jul 8, 2022) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown2not providednot provided2not providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From MVZ Dr. Eberhard & Partner Dortmund, SCV002760215.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
2not provided1not providednot providedclinical testing PubMed (1)

Description

Potential compound heterozygosity for both variants could not be varified by segregation analysis.

Potential compound heterozygosity for both variants could not be varified by segregation analysis.

Description

This variant potentially produces a missense substitution in the protein sequence from Alanine to Threonine. It is not present in literature or mutation databases. The variant was present in control databases such as GnomAD with a frequency of 0.0018 % in different ethnicities. The amino acid at position 1098 is not highly conserved with some mamal species showing Threonine at the position. In silico algorithms do not show a deleterious effect on the gene product.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknown1not providednot provided1not providednot providednot provided
2unknownunknown1not providednot provided1not providednot providednot provided

Last Updated: Dec 17, 2022