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NM_004924.6(ACTN4):c.832G>A (p.Ala278Thr) AND Focal segmental glomerulosclerosis 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 16, 2018
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:
RCV000786904.2

Allele description [Variation Report for NM_004924.6(ACTN4):c.832G>A (p.Ala278Thr)]

NM_004924.6(ACTN4):c.832G>A (p.Ala278Thr)

Gene:
ACTN4:actinin alpha 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_004924.6(ACTN4):c.832G>A (p.Ala278Thr)
HGVS:
  • NC_000019.10:g.38714481G>A
  • NG_007082.2:g.71795G>A
  • NM_001322033.2:c.832G>A
  • NM_004924.6:c.832G>AMANE SELECT
  • NP_001308962.1:p.Ala278Thr
  • NP_004915.2:p.Ala278Thr
  • NC_000019.9:g.39205121G>A
  • NM_004924.4:c.832G>A
Protein change:
A278T
Links:
dbSNP: rs779765397
NCBI 1000 Genomes Browser:
rs779765397
Molecular consequence:
  • NM_001322033.2:c.832G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004924.6:c.832G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Focal segmental glomerulosclerosis 1 (FSGS1)
Identifiers:
MONDO: MONDO:0011303; MedGen: C4551527; Orphanet: 656; OMIM: 603278

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000925804Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
no assertion criteria provided
Uncertain significance
(Nov 16, 2018) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare, SCV000925804.1

#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: May 1, 2024