NM_003002.4(SDHD):c.411del (p.Leu139fs) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 16, 2018
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000681950.1

Allele description [Variation Report for NM_003002.4(SDHD):c.411del (p.Leu139fs)]

NM_003002.4(SDHD):c.411del (p.Leu139fs)

Gene:

SDHD:succinate dehydrogenase complex subunit D [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

11q23.1

Genomic location:

Preferred name:

NM_003002.4(SDHD):c.411del (p.Leu139fs)

HGVS:

NC_000011.10:g.112094901del
NG_012337.3:g.13055del
NM_001276503.2:c.*8del
NM_001276504.2:c.294del
NM_001276506.2:c.*109del
NM_003002.4:c.411delMANE SELECT
NP_001263433.1:p.Leu100fs
NP_002993.1:p.Leu139fs
LRG_9t1:c.411del
LRG_9:g.13055del
LRG_9p1:p.Leu139fs
NC_000011.9:g.111965625del
NR_077060.2:n.500del

Protein change:

L100fs

Links:

dbSNP: rs1566702771

NCBI 1000 Genomes Browser:

rs1566702771

Molecular consequence:

NM_001276503.2:c.*8del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001276506.2:c.*109del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001276504.2:c.294del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003002.4:c.411del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_077060.2:n.500del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000809438	Gharavi Laboratory, Columbia University	no assertion criteria provided (ACMG Guidelines, 2015)	Likely pathogenic (Sep 16, 2018)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000809438

Gharavi Laboratory, Columbia University

no assertion criteria provided

(ACMG Guidelines, 2015)

Likely pathogenic
(Sep 16, 2018)

germline

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research

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 Gharavi Laboratory, Columbia University, SCV000809438.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 5, 2022

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