U.S. flag

An official website of the United States government

NM_000283.4(PDE6B):c.2152G>A (p.Asp718Asn) AND Retinitis pigmentosa 40

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 28, 2022
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:
RCV002286728.3

Allele description [Variation Report for NM_000283.4(PDE6B):c.2152G>A (p.Asp718Asn)]

NM_000283.4(PDE6B):c.2152G>A (p.Asp718Asn)

Gene:
PDE6B:phosphodiesterase 6B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p16.3
Genomic location:
Preferred name:
NM_000283.4(PDE6B):c.2152G>A (p.Asp718Asn)
HGVS:
  • NC_000004.12:g.664903G>A
  • NG_009839.1:g.44330G>A
  • NM_000283.4:c.2152G>AMANE SELECT
  • NM_001145291.2:c.2152G>A
  • NM_001145292.2:c.1315G>A
  • NM_001350154.3:c.1315G>A
  • NM_001350155.3:c.997G>A
  • NM_001379246.1:c.1315G>A
  • NM_001379247.1:c.1315G>A
  • NP_000274.2:p.Asp718Asn
  • NP_000274.3:p.Asp718Asn
  • NP_001138763.2:p.Asp718Asn
  • NP_001138764.2:p.Asp439Asn
  • NP_001337083.1:p.Asp439Asn
  • NP_001337084.1:p.Asp333Asn
  • NP_001366175.1:p.Asp439Asn
  • NP_001366176.1:p.Asp439Asn
  • NC_000004.11:g.658692G>A
  • NM_000283.3:c.2152G>A
Protein change:
D333N
Links:
dbSNP: rs150639487
NCBI 1000 Genomes Browser:
rs150639487
Molecular consequence:
  • NM_000283.4:c.2152G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145291.2:c.2152G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145292.2:c.1315G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350154.3:c.1315G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350155.3:c.997G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379246.1:c.1315G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379247.1:c.1315G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Retinitis pigmentosa 40 (RP40)
Identifiers:
MONDO: MONDO:0013429; MedGen: C3151107; Orphanet: 791; OMIM: 613801

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002577574Laboratory of Medical Genetics, National & Kapodistrian University of Athens
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Mar 28, 2022)
germlineclinical testing

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

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 Laboratory of Medical Genetics, National & Kapodistrian University of Athens, SCV002577574.2

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

Description

PM1, PM2, PP3, PP4 We detected this variant in homozygous state in a patient with retinitis pigmentosa.

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

Last Updated: Oct 20, 2024