NM_174889.5(NDUFAF2):c.13C>T (p.Gln5Ter) AND Cockayne syndrome type 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 10, 2018
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:: RCV000674445.10

Allele description [Variation Report for NM_174889.5(NDUFAF2):c.13C>T (p.Gln5Ter)]

NM_174889.5(NDUFAF2):c.13C>T (p.Gln5Ter)

Genes:

ERCC8:ERCC excision repair 8, CSA ubiquitin ligase complex subunit [Gene - OMIM - HGNC]
NDUFAF2:NADH:ubiquinone oxidoreductase complex assembly factor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q12.1

Genomic location:

Preferred name:

NM_174889.5(NDUFAF2):c.13C>T (p.Gln5Ter)

HGVS:

NC_000005.10:g.60945268C>T
NG_008978.1:g.5140C>T
NG_009289.1:g.4811G>A
NM_174889.5:c.13C>TMANE SELECT
NP_777549.1:p.Gln5Ter
LRG_466t1:c.-260G>A
LRG_466:g.4811G>A
NC_000005.9:g.60241095C>T
NM_000082.3:c.-260G>A
NM_174889.4:c.13C>T

Protein change:

Q5*

Links:

dbSNP: rs772489808

NCBI 1000 Genomes Browser:

rs772489808

Molecular consequence:

NM_174889.5:c.13C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Cockayne syndrome type 1
Synonyms:: Cockayne syndrome type A; Cockayne syndrome classical; Cockayne syndrome classic form; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0019569; MedGen: C0751039; Orphanet: 191; OMIM: 216400

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000799783	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (May 10, 2018)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000799783

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(May 10, 2018)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000799783.1

#	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

Last Updated: Nov 30, 2024

ClinVar

Relating variation to medicine