NM_016204.4(GDF2):c.1075G>A (p.Gly359Ser) AND Telangiectasia, hereditary hemorrhagic, type 5

Clinical significance:Uncertain significance (Last evaluated: Dec 11, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001353249.1

Allele description [Variation Report for NM_016204.4(GDF2):c.1075G>A (p.Gly359Ser)]

NM_016204.4(GDF2):c.1075G>A (p.Gly359Ser)

Gene:
GDF2:growth differentiation factor 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q11.22
Genomic location:
Preferred name:
NM_016204.4(GDF2):c.1075G>A (p.Gly359Ser)
HGVS:
  • NC_000010.11:g.47325569G>A
  • NG_033916.1:g.8080G>A
  • NM_016204.4:c.1075G>AMANE SELECT
  • NP_057288.1:p.Gly359Ser
  • NC_000010.10:g.48413793C>T
  • NM_016204.3:c.1075G>A
Protein change:
G359S
Molecular consequence:
  • NM_016204.4:c.1075G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Telangiectasia, hereditary hemorrhagic, type 5 (HHT5)
Identifiers:
MONDO: MONDO:0014217; MedGen: C3809710; Orphanet: 774; OMIM: 615506

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001548392Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleaguescriteria provided, single submitter
Uncertain significance
(Dec 11, 2020)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues, SCV001548392.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

Support Center