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NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser) AND multiple conditions

Germline classification:
Benign (1 submission)
Last evaluated:
Sep 1, 2021
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:
RCV002490349.8

Allele description [Variation Report for NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser)]

NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser)

Gene:
GUCY2D:guanylate cyclase 2D, retinal [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser)
HGVS:
  • NC_000017.11:g.8003201G>T
  • NG_009092.1:g.5532G>T
  • NM_000180.4:c.154G>TMANE SELECT
  • NP_000171.1:p.Ala52Ser
  • NP_000171.1:p.Ala52Ser
  • NC_000017.10:g.7906519G>T
  • NM_000180.3:c.154G>T
  • Q02846:p.Ala52Ser
Protein change:
A52S; ALA52SER
Links:
UniProtKB: Q02846#VAR_003435; OMIM: 600179.0004; dbSNP: rs61749665
NCBI 1000 Genomes Browser:
rs61749665
Molecular consequence:
  • NM_000180.4:c.154G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Choroidal dystrophy, central areolar, 1
Identifiers:
MONDO: MONDO:0024539; MedGen: C4551884; Orphanet: 75377; OMIM: 215500
Name:
Cone-rod dystrophy 6 (CORD6)
Synonyms:
Retinal cone dystrophy 2; Cone dystrophy progressive
Identifiers:
MONDO: MONDO:0011143; MedGen: C1866293; Orphanet: 1872; OMIM: 601777
Name:
Leber congenital amaurosis 1 (LCA1)
Synonyms:
AMAUROSIS CONGENITA OF LEBER I; Congenital absence of the rods and cones; Leber's congenital tapetoretinal degeneration; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008764; MedGen: C2931258; Orphanet: 65; OMIM: 204000
Name:
Night blindness, congenital stationary, type1i
Synonyms:
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1I
Identifiers:
MONDO: MONDO:0032811; MedGen: C5231408; OMIM: 618555

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002802295Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Sep 1, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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 Fulgent Genetics, Fulgent Genetics, SCV002802295.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024