NM_003002.4(SDHD):c.*5T>C AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Jun 27, 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:: RCV001284061.9

Allele description

NM_003002.4(SDHD):c.*5T>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.1

Genomic location:

Preferred name:

NM_003002.4(SDHD):c.*5T>C

HGVS:

NC_000011.10:g.112094975T>C
NG_012337.3:g.13129T>C
NM_001276503.2:c.*82T>C
NM_001276504.2:c.*5T>C
NM_001276506.2:c.*183T>C
NM_003002.4:c.*5T>CMANE SELECT
LRG_9t1:c.*5T>C
LRG_9:g.13129T>C
NC_000011.9:g.111965699T>C
NM_003002.2:c.*5T>C
NM_003002.3:c.*5T>C
NR_077060.2:n.574T>C

Links:

dbSNP: rs201987672

NCBI 1000 Genomes Browser:

rs201987672

Molecular consequence:

NM_001276503.2:c.*82T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001276504.2:c.*5T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001276506.2:c.*183T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_003002.4:c.*5T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NR_077060.2:n.574T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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sodium/potassium-transporting ATPase subunit beta-2 [Rattus norvegicus]
sodium/potassium-transporting ATPase subunit beta-2 [Rattus norvegicus]
gi|56799390|ref|NP_036639.2|

Protein
SRX054482 (1)
SRA
Arachnula sp.
Arachnula sp.
Telaepolella tubasferens Raw sequence reads

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001469644	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Likely benign (Dec 15, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001823331	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Jun 27, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001469644

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Likely benign
(Dec 15, 2022)

unknown

clinical testing

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

SCV001823331

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Jun 27, 2023)

germline

clinical testing

Citation Link

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	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001469644.3

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

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

From GeneDx, SCV001823331.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

See Variant Classification Assertion Criteria.

#	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: May 19, 2024

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