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NM_000266.4(NDP):c.361C>T (p.Arg121Trp) AND Atrophia bulborum hereditaria

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 12, 2023
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:
RCV003334376.1

Allele description [Variation Report for NM_000266.4(NDP):c.361C>T (p.Arg121Trp)]

NM_000266.4(NDP):c.361C>T (p.Arg121Trp)

Genes:
NDP-AS1:NDP antisense RNA 1 [Gene - HGNC]
NDP:norrin cystine knot growth factor NDP [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.3
Genomic location:
Preferred name:
NM_000266.4(NDP):c.361C>T (p.Arg121Trp)
HGVS:
  • NC_000023.11:g.43949840G>A
  • NG_009832.1:g.28836C>T
  • NM_000266.4:c.361C>TMANE SELECT
  • NP_000257.1:p.Arg121Trp
  • NC_000023.10:g.43809086G>A
  • NM_000266.3:c.361C>T
  • NR_046631.1:n.109G>A
  • Q00604:p.Arg121Trp
Protein change:
R121W; ARG121TRP
Links:
UniProtKB: Q00604#VAR_005502; OMIM: 300658.0010; dbSNP: rs104894878
NCBI 1000 Genomes Browser:
rs104894878
Molecular consequence:
  • NM_000266.4:c.361C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_046631.1:n.109G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Atrophia bulborum hereditaria (ND)
Synonyms:
Pseudoglioma; Episkopi blindness; Norrie syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010691; MedGen: C0266526; Orphanet: 649; OMIM: 310600; Human Phenotype Ontology: HP:6000262

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004042754Human Genetics Bochum, Ruhr University Bochum
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jul 12, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical 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 Human Genetics Bochum, Ruhr University Bochum, SCV004042754.1

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

Description

ACMG criteria used to clasify this variant: PS4_MOD, PP3_MOD, PM2_SUP, PP1

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

Last Updated: Nov 10, 2024