NM_001033855.3(DCLRE1C):c.571C>T (p.Arg191Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 9, 2021
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:: RCV001780611.4

Allele description [Variation Report for NM_001033855.3(DCLRE1C):c.571C>T (p.Arg191Ter)]

NM_001033855.3(DCLRE1C):c.571C>T (p.Arg191Ter)

Gene:

DCLRE1C:DNA cross-link repair 1C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10p13

Genomic location:

Preferred name:

NM_001033855.3(DCLRE1C):c.571C>T (p.Arg191Ter)

Other names:

NM_001033855.3(DCLRE1C):c.571C>T; p.Arg191Ter

HGVS:

NC_000010.11:g.14934487G>A
NG_007276.1:g.24609C>T
NM_001033855.3:c.571C>TMANE SELECT
NM_001033857.3:c.211C>T
NM_001033858.3:c.211C>T
NM_001289076.2:c.226C>T
NM_001289077.2:c.211C>T
NM_001289078.2:c.226C>T
NM_001289079.2:c.211C>T
NM_001350965.2:c.571C>T
NM_001350966.2:c.226C>T
NM_001350967.2:c.211C>T
NM_022487.4:c.226C>T
NP_001029027.1:p.Arg191Ter
NP_001029029.1:p.Arg71Ter
NP_001029030.1:p.Arg71Ter
NP_001276005.1:p.Arg76Ter
NP_001276006.1:p.Arg71Ter
NP_001276007.1:p.Arg76Ter
NP_001276008.1:p.Arg71Ter
NP_001337894.1:p.Arg191Ter
NP_001337895.1:p.Arg76Ter
NP_001337896.1:p.Arg71Ter
NP_071932.2:p.Arg76Ter
LRG_54:g.24609C>T
NC_000010.10:g.14976486G>A
NR_110297.2:n.869C>T
NR_146960.1:n.993C>T
NR_146961.2:n.686C>T
NR_146962.1:n.993C>T

Protein change:

R191*

Links:

dbSNP: rs752655158

NCBI 1000 Genomes Browser:

rs752655158

Molecular consequence:

NR_110297.2:n.869C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146960.1:n.993C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146961.2:n.686C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146962.1:n.993C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001033855.3:c.571C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001033857.3:c.211C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001033858.3:c.211C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001289076.2:c.226C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001289077.2:c.211C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001289078.2:c.226C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001289079.2:c.211C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001350965.2:c.571C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001350966.2:c.226C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001350967.2:c.211C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_022487.4:c.226C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Mus musculus microtubule-associated protein 1 A (Map1a), transcript variant 1, m...
Mus musculus microtubule-associated protein 1 A (Map1a), transcript variant 1, mRNA
gi|291045238|ref|NM_032393.2|

Nucleotide
protein FEV [Mus musculus]
protein FEV [Mus musculus]
gi|23346545|ref|NP_694751.1|

Protein
DUF281 domain-containing protein [Caenorhabditis elegans]
DUF281 domain-containing protein [Caenorhabditis elegans]
gi|17533283|ref|NP_494266.1|

Protein
Caenorhabditis elegans Uncharacterized protein (F46C5.2), mRNA
Caenorhabditis elegans Uncharacterized protein (F46C5.2), mRNA
gi|1972252238|ref|NM_063480.8|

Nucleotide
esterase OVCA2 [Mus musculus]
esterase OVCA2 [Mus musculus]
gi|18158418|ref|NP_081412.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002018150	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Sep 9, 2021)	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

SCV002018150

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Sep 9, 2021)

germline

clinical testing

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 Revvity Omics, Revvity, SCV002018150.3

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

Last Updated: Sep 29, 2024

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