NM_000124.4(ERCC6):c.3908G>A (p.Arg1303Gln) AND not provided

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

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jan 2, 2024
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV002932301.2

Allele description

NM_000124.4(ERCC6):c.3908G>A (p.Arg1303Gln)

Gene:

ERCC6:ERCC excision repair 6, chromatin remodeling factor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q11.23

Genomic location:

Preferred name:

NM_000124.4(ERCC6):c.3908G>A (p.Arg1303Gln)

HGVS:

NC_000010.11:g.49461427C>T
NG_009442.1:g.82675G>A
NM_000124.4:c.3908G>AMANE SELECT
NM_001346440.2:c.3908G>A
NP_000115.1:p.Arg1303Gln
NP_000115.1:p.Arg1303Gln
NP_001333369.1:p.Arg1303Gln
LRG_465t1:c.3908G>A
LRG_465:g.82675G>A
LRG_465p1:p.Arg1303Gln
NC_000010.10:g.50669473C>T
NM_000124.2:c.3908G>A

Protein change:

R1303Q

Molecular consequence:

NM_000124.4:c.3908G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001346440.2:c.3908G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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proteasome inhibitor PI31 subunit isoform 3 [Homo sapiens]
proteasome inhibitor PI31 subunit isoform 3 [Homo sapiens]
gi|1020738610|ref|NP_001310336.1|

Protein
Homo sapiens proteasome inhibitor subunit 1 (PSMF1), transcript variant 3, mRNA
Homo sapiens proteasome inhibitor subunit 1 (PSMF1), transcript variant 3, mRNA
gi|1675178610|ref|NM_001323407.2|

Nucleotide
cytochrome oxidase subunit III, partial (mitochondrion) [Sagartiogeton laceratus...
cytochrome oxidase subunit III, partial (mitochondrion) [Sagartiogeton laceratus]
gi|268537519|gb|ACZ06571.1|

Protein
JGI_CABH2924.rev NIH_XGC_tropSkeMus1 Xenopus tropicalis cDNA clone IMAGE:7846310...
JGI_CABH2924.rev NIH_XGC_tropSkeMus1 Xenopus tropicalis cDNA clone IMAGE:7846310 3', mRNA sequence
gi|74029177|gnl|dbEST|31179839|gb|D 85.1|

Nucleotide
Thermoplasma
Thermoplasma
A genus of facultatively anaerobic heterotrophic archaea, in the order THERMOPLASMALES, isolated from self-heating coal refuse piles and acid hot springs. They are thermophili...<br/>Year introduced: 1976

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003257341	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Jan 2, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003257341

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Jan 2, 2024)

germline

clinical testing

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

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
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 Invitae, SCV003257341.2

#	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

Last Updated: Feb 20, 2024

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