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NM_018941.4(CLN8):c.806A>T (p.Glu269Val) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 19, 2019
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:
RCV002408767.2

Allele description [Variation Report for NM_018941.4(CLN8):c.806A>T (p.Glu269Val)]

NM_018941.4(CLN8):c.806A>T (p.Glu269Val)

Gene:
CLN8:CLN8 transmembrane ER and ERGIC protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8p23.3
Genomic location:
Preferred name:
NM_018941.4(CLN8):c.806A>T (p.Glu269Val)
Other names:
p.E269V:GAA>GTA
HGVS:
  • NC_000008.11:g.1780512A>T
  • NG_008656.2:g.29735A>T
  • NM_018941.4:c.806A>TMANE SELECT
  • NP_061764.2:p.Glu269Val
  • NP_061764.2:p.Glu269Val
  • LRG_691t1:c.806A>T
  • LRG_691:g.29735A>T
  • LRG_691p1:p.Glu269Val
  • NC_000008.10:g.1728678A>T
  • NM_018941.3:c.806A>T
  • Q9UBY8:p.Glu269Val
Protein change:
E269V
Links:
UniProtKB: Q9UBY8#VAR_066928; dbSNP: rs139003032
NCBI 1000 Genomes Browser:
rs139003032
Molecular consequence:
  • NM_018941.4:c.806A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002675697Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jul 19, 2019) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Revisiting the morbid genome of Mendelian disorders.

Abouelhoda M, Faquih T, El-Kalioby M, Alkuraya FS.

Genome Biol. 2016 Nov 24;17(1):235.

PubMed [citation]
PMID:
27884173
PMCID:
PMC5123336

A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield.

Alfares A, Alfadhel M, Wani T, Alsahli S, Alluhaydan I, Al Mutairi F, Alothaim A, Albalwi M, Al Subaie L, Alturki S, Al-Twaijri W, Alrifai M, Al-Rumayya A, Alameer S, Faqeeh E, Alasmari A, Alsamman A, Tashkandia S, Alghamdi A, Alhashem A, Tabarki B, AlShahwan S, et al.

Mol Genet Metab. 2017 Jun;121(2):91-95. doi: 10.1016/j.ymgme.2017.04.002. Epub 2017 Apr 7. No abstract available.

PubMed [citation]
PMID:
28454995

Details of each submission

From Ambry Genetics, SCV002675697.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024