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NM_003661.4(APOL1):c.1024A>G (p.Ser342Gly) AND not specified

Germline classification:
Likely risk allele (1 submission)
Last evaluated:
Feb 15, 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:
RCV002248501.2

Allele description [Variation Report for NM_003661.4(APOL1):c.1024A>G (p.Ser342Gly)]

NM_003661.4(APOL1):c.1024A>G (p.Ser342Gly)

Gene:
APOL1:apolipoprotein L1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q12.3
Genomic location:
Preferred name:
NM_003661.4(APOL1):c.1024A>G (p.Ser342Gly)
HGVS:
  • NC_000022.11:g.36265860A>G
  • NG_023228.1:g.17790A>G
  • NM_001136540.2:c.1024A>G
  • NM_001136541.2:c.970A>G
  • NM_001362927.2:c.970A>G
  • NM_003661.4:c.1024A>GMANE SELECT
  • NM_145343.3:c.1072A>G
  • NP_001130012.1:p.Ser342Gly
  • NP_001130013.1:p.Ser324Gly
  • NP_001349856.1:p.Ser324Gly
  • NP_003652.2:p.Ser342Gly
  • NP_663318.1:p.Ser358Gly
  • NP_663318.1:p.Ser358Gly
  • LRG_169t1:c.1072A>G
  • LRG_169:g.17790A>G
  • LRG_169p1:p.Ser358Gly
  • NC_000022.10:g.36661906A>G
  • NM_003661.3:c.1024A>G
  • NM_145343.2:c.1072A>G
  • c.1024A>G (p.Ser342Gly)
Protein change:
S324G; Ser358Gly
Links:
OMIM: 603743.0001; dbSNP: rs73885319
NCBI 1000 Genomes Browser:
rs73885319
Molecular consequence:
  • NM_001136540.2:c.1024A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136541.2:c.970A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362927.2:c.970A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003661.4:c.1024A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_145343.3:c.1072A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002516948Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2019)
Likely risk allele
(Feb 15, 2023)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Mendelics, SCV002516948.2

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

Last Updated: Jul 15, 2024