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NM_001114753.3(ENG):c.1510G>A (p.Val504Met) AND not provided

Germline classification:
Benign/Likely benign (2 submissions)
Last evaluated:
Feb 1, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001610455.12

Allele description [Variation Report for NM_001114753.3(ENG):c.1510G>A (p.Val504Met)]

NM_001114753.3(ENG):c.1510G>A (p.Val504Met)

Genes:
ENG:endoglin [Gene - OMIM - HGNC]
LOC102723566:uncharacterized LOC102723566 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_001114753.3(ENG):c.1510G>A (p.Val504Met)
Other names:
NM_001114753.3(ENG):c.1510G>A
HGVS:
  • NC_000009.12:g.127818296C>T
  • NG_009551.1:g.41473G>A
  • NM_000118.4:c.1510G>A
  • NM_001114753.3:c.1510G>AMANE SELECT
  • NM_001278138.2:c.964G>A
  • NP_000109.1:p.Val504Met
  • NP_000109.1:p.Val504Met
  • NP_001108225.1:p.Val504Met
  • NP_001108225.1:p.Val504Met
  • NP_001265067.1:p.Val322Met
  • LRG_589t1:c.1510G>A
  • LRG_589t2:c.1510G>A
  • LRG_589:g.41473G>A
  • LRG_589p1:p.Val504Met
  • LRG_589p2:p.Val504Met
  • NC_000009.11:g.130580575C>T
  • NM_000118.2:c.1510G>A
  • NM_000118.3:c.1510G>A
  • NM_001114753.1:c.1510G>A
  • NM_001114753.2:c.1510G>A
  • P17813:p.Val504Met
Protein change:
V322M
Links:
UniProtKB: P17813#VAR_026782; dbSNP: rs116330805
NCBI 1000 Genomes Browser:
rs116330805
Molecular consequence:
  • NM_000118.4:c.1510G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114753.3:c.1510G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278138.2:c.964G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001839978GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Benign
(Dec 11, 2018)
germlineclinical testing

Citation Link,

SCV004010860CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Likely benign
(Feb 1, 2024)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV001839978.1

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

Description

This variant is associated with the following publications: (PMID: 25312062, 15024723, 22022569, 20981092, 19767588, 25637381, 22995991, 24055113)

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

From CeGaT Center for Human Genetics Tuebingen, SCV004010860.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided

Description

ENG: BP4, BS2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

Last Updated: Jun 17, 2024