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NM_004168.4(SDHA):c.17G>A (p.Gly6Asp) AND not provided

Germline classification:
Benign/Likely benign (3 submissions)
Last evaluated:
Nov 1, 2023
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:
RCV000224380.16

Allele description [Variation Report for NM_004168.4(SDHA):c.17G>A (p.Gly6Asp)]

NM_004168.4(SDHA):c.17G>A (p.Gly6Asp)

Gene:
SDHA:succinate dehydrogenase complex flavoprotein subunit A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5p15.33
Genomic location:
Preferred name:
NM_004168.4(SDHA):c.17G>A (p.Gly6Asp)
HGVS:
  • NC_000005.10:g.218372G>A
  • NG_012339.1:g.5132G>A
  • NG_033064.1:g.4811C>T
  • NM_001294332.2:c.17G>A
  • NM_001330758.2:c.17G>A
  • NM_004168.4:c.17G>AMANE SELECT
  • NP_001281261.1:p.Gly6Asp
  • NP_001317687.1:p.Gly6Asp
  • NP_004159.2:p.Gly6Asp
  • LRG_315t1:c.17G>A
  • LRG_315:g.5132G>A
  • LRG_315p1:p.Gly6Asp
  • NC_000005.9:g.218487G>A
  • NM_004168.2:c.17G>A
  • NM_004168.3:c.17G>A
Protein change:
G6D
Links:
dbSNP: rs187964306
NCBI 1000 Genomes Browser:
rs187964306
Molecular consequence:
  • NM_001294332.2:c.17G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330758.2:c.17G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004168.4:c.17G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV000279724GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely benign
(Sep 29, 2021)
germlineclinical testing

Citation Link,

SCV000281241Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely Benign
(Oct 27, 2015)
germlineclinical testing

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

SCV004185247CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Benign
(Nov 1, 2023)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedclinical testing
not providedgermlineyes1not providednot providednot providednot 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 GeneDx, SCV000279724.7

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

Description

This variant is associated with the following publications: (PMID: 25801821)

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

From Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics, SCV000281241.1

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

Description

Converted during submission to Likely benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot provided0.001113not providednot provided

From CeGaT Center for Human Genetics Tuebingen, SCV004185247.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

SDHA: BS1, BS2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2024