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NM_000350.3(ABCA4):c.2126C>T (p.Ser709Leu) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 3, 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:
RCV002554700.2

Allele description [Variation Report for NM_000350.3(ABCA4):c.2126C>T (p.Ser709Leu)]

NM_000350.3(ABCA4):c.2126C>T (p.Ser709Leu)

Gene:
ABCA4:ATP binding cassette subfamily A member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p22.1
Genomic location:
Preferred name:
NM_000350.3(ABCA4):c.2126C>T (p.Ser709Leu)
HGVS:
  • NC_000001.11:g.94060571G>A
  • NG_009073.1:g.65579C>T
  • NG_009073.2:g.65577C>T
  • NM_000350.3:c.2126C>TMANE SELECT
  • NM_001425324.1:c.2126C>T
  • NP_000341.2:p.Ser709Leu
  • NP_001412253.1:p.Ser709Leu
  • NC_000001.10:g.94526127G>A
  • NM_000350.2:c.2126C>T
Protein change:
S709L
Links:
dbSNP: rs374152623
NCBI 1000 Genomes Browser:
rs374152623
Molecular consequence:
  • NM_000350.3:c.2126C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001425324.1:c.2126C>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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003744668Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 3, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003744668.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.2126C>T (p.S709L) alteration is located in exon 14 (coding exon 14) of the ABCA4 gene. This alteration results from a C to T substitution at nucleotide position 2126, causing the serine (S) at amino acid position 709 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024