NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) AND not provided

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

Germline classification:: Likely benign (1 submission)
Last evaluated:: Sep 2, 2015
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:: RCV000224125.1

Allele description

NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg)

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.457G>A (p.Gly153Arg)

HGVS:

NC_000010.11:g.14935470C>T
NG_007276.1:g.23626G>A
NM_001033855.3:c.457G>AMANE SELECT
NM_001033857.3:c.97G>A
NM_001033858.3:c.97G>A
NM_001289076.2:c.112G>A
NM_001289077.2:c.97G>A
NM_001289078.2:c.112G>A
NM_001289079.2:c.97G>A
NM_001350965.2:c.457G>A
NM_001350966.2:c.112G>A
NM_001350967.2:c.97G>A
NM_022487.4:c.112G>A
NP_001029027.1:p.Gly153Arg
NP_001029029.1:p.Gly33Arg
NP_001029030.1:p.Gly33Arg
NP_001276005.1:p.Gly38Arg
NP_001276006.1:p.Gly33Arg
NP_001276007.1:p.Gly38Arg
NP_001276008.1:p.Gly33Arg
NP_001337894.1:p.Gly153Arg
NP_001337895.1:p.Gly38Arg
NP_001337896.1:p.Gly33Arg
NP_071932.2:p.Gly38Arg
LRG_54t1:c.457G>A
LRG_54:g.23626G>A
NC_000010.10:g.14977469C>T
NM_001033855.1:c.457G>A
NM_001033855.2:c.457G>A
NM_001033857.1:c.97G>A
NM_001033858.1:c.97G>A
NR_110297.2:n.755G>A
NR_146960.1:n.879G>A
NR_146961.2:n.572G>A
NR_146962.1:n.879G>A

Protein change:

G153R

Links:

dbSNP: rs41297018

NCBI 1000 Genomes Browser:

rs41297018

Molecular consequence:

NM_001033855.3:c.457G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001033857.3:c.97G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001033858.3:c.97G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001289076.2:c.112G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001289077.2:c.97G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001289078.2:c.112G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001289079.2:c.97G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001350965.2:c.457G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001350966.2:c.112G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001350967.2:c.97G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_022487.4:c.112G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_110297.2:n.755G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146960.1:n.879G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146961.2:n.572G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146962.1:n.879G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000280758	Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely Benign (Sep 2, 2015)	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

SCV000280758

Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely Benign
(Sep 2, 2015)

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	not provided	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 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics, SCV000280758.1

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

Description

Converted during submission to Likely benign.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	0.010762	not provided	not provided

Last Updated: Sep 8, 2021

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