NM_021830.5(TWNK):c.639C>T (p.Gly213=) AND not provided

Germline classification:: Benign/Likely benign (4 submissions)
Last evaluated:: Jun 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:: RCV000676300.32

Allele description [Variation Report for NM_021830.5(TWNK):c.639C>T (p.Gly213=)]

NM_021830.5(TWNK):c.639C>T (p.Gly213=)

Gene:

TWNK:twinkle mtDNA helicase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q24.31

Genomic location:

Preferred name:

NM_021830.5(TWNK):c.639C>T (p.Gly213=)

Other names:

p.G213G:GGC>GGT

HGVS:

NC_000010.11:g.100988849C>T
NG_011646.1:g.3667G>A
NG_012624.1:g.6314C>T
NM_001163812.2:c.639C>T
NM_001163813.2:c.-119-795C>T
NM_001163814.2:c.-119-795C>T
NM_001368275.1:c.-57-857C>T
NM_021830.5:c.639C>TMANE SELECT
NP_001157284.1:p.Gly213=
NP_068602.2:p.Gly213=
NC_000010.10:g.102748606C>T
NM_021830.4:c.639C>T
NR_160738.1:n.1307C>T
NR_160740.1:n.1307C>T
NR_160741.1:n.1307C>T
NR_160742.1:n.1307C>T

Links:

dbSNP: rs11542130

NCBI 1000 Genomes Browser:

rs11542130

Molecular consequence:

NM_001163813.2:c.-119-795C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001163814.2:c.-119-795C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001368275.1:c.-57-857C>T - intron variant - [Sequence Ontology: SO:0001627]
NR_160738.1:n.1307C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160740.1:n.1307C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160741.1:n.1307C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160742.1:n.1307C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001163812.2:c.639C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_021830.5:c.639C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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RecName: Full=Probable ATP-dependent RNA helicase ddx42; AltName: Full=DEAD box ...
RecName: Full=Probable ATP-dependent RNA helicase ddx42; AltName: Full=DEAD box protein 42
gi|74896924|sp|Q54IV3.1|DDX42_DICDI

Protein
LOC107787940 [Nicotiana tabacum]
LOC107787940 [Nicotiana tabacum]
Gene ID:107787940

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000802057	Mayo Clinic Laboratories, Mayo Clinic	no assertion criteria provided	Likely benign (Dec 6, 2017)	unknown	clinical testing
SCV001013053	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Jan 29, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001746037	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Jun 1, 2024)	germline	clinical testing	Citation Link,
SCV004563976	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024)	Likely benign (Oct 2, 2023)	germline	clinical testing	Citation Link

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	5	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
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV000802057.1

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

#	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 Labcorp Genetics (formerly Invitae), Labcorp, SCV001013053.5

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From CeGaT Center for Human Genetics Tuebingen, SCV001746037.20

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	5	not provided	not provided	clinical testing	not provided

Description

TWNK: BP4, BP7

#	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		5	not provided	not provided	not provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV004563976.1

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

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

Last Updated: Oct 20, 2024

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