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NM_005502.4(ABCA1):c.2320A>C (p.Thr774Pro) AND not specified

Germline classification:
Benign (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001700361.2

Allele description [Variation Report for NM_005502.4(ABCA1):c.2320A>C (p.Thr774Pro)]

NM_005502.4(ABCA1):c.2320A>C (p.Thr774Pro)

Gene:
ABCA1:ATP binding cassette subfamily A member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q31.1
Genomic location:
Preferred name:
NM_005502.4(ABCA1):c.2320A>C (p.Thr774Pro)
HGVS:
  • NC_000009.12:g.104826965T>G
  • NG_007981.1:g.106191A>C
  • NM_005502.4:c.2320A>CMANE SELECT
  • NP_005493.2:p.Thr774Pro
  • LRG_542t1:c.2320A>C
  • LRG_542:g.106191A>C
  • LRG_542p1:p.Thr774Pro
  • NC_000009.11:g.107589246T>G
  • NM_005502.3:c.2320A>C
  • O95477:p.Thr774Pro
Protein change:
T774P
Links:
UniProtKB: O95477#VAR_012622; dbSNP: rs35819696
NCBI 1000 Genomes Browser:
rs35819696
Molecular consequence:
  • NM_005502.4:c.2320A>C - 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
SCV001923232Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Benigngermlineclinical testing

Summary from all submissions

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

Details of each submission

From Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus, SCV001923232.1

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

Last Updated: Sep 29, 2024