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NM_000843.4(GRM6):c.1875C>T (p.Tyr625=) AND Congenital stationary night blindness 1B

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 28, 2017
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:
RCV000625248.2

Allele description [Variation Report for NM_000843.4(GRM6):c.1875C>T (p.Tyr625=)]

NM_000843.4(GRM6):c.1875C>T (p.Tyr625=)

Genes:
GRM6:glutamate metabotropic receptor 6 [Gene - OMIM - HGNC]
ZNF454:zinc finger protein 454 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q35.3
Genomic location:
Preferred name:
NM_000843.4(GRM6):c.1875C>T (p.Tyr625=)
HGVS:
  • NC_000005.10:g.178986379G>A
  • NG_008105.1:g.13745C>T
  • NM_000843.4:c.1875C>TMANE SELECT
  • NP_000834.2:p.Tyr625=
  • LRG_1236t1:c.1875C>T
  • LRG_1236:g.13745C>T
  • LRG_1236p1:p.Tyr625=
  • NC_000005.9:g.178413380G>A
  • NM_000843.3:c.1875C>T
  • NP_000834.2:p.(=)
Links:
dbSNP: rs62638215
NCBI 1000 Genomes Browser:
rs62638215
Molecular consequence:
  • NM_000843.4:c.1875C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Congenital stationary night blindness 1B
Synonyms:
NIGHT BLINDNESS, CONGENITAL STATIONARY, COMPLETE, AUTOSOMAL RECESSIVE; Night blindness, congenital stationary (complete), 1B, autosomal recessive
Identifiers:
MONDO: MONDO:0009758; MedGen: C1850362; Orphanet: 215; OMIM: 257270

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000744311Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus
criteria provided, single submitter

(ACGS Guidelines, 2013)		Likely benign
(Jun 28, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV000744311.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024