9-104796778-G-A

Variant summary

Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_ModerateBP6BA1

The NM_005502.4(ABCA1):​c.5122-354C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.865 in 152,130 control chromosomes in the GnomAD database, including 57,143 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in Lovd as Benign (no stars).

Frequency

Genomes: 𝑓 0.87 ( 57143 hom., cov: 32)

Consequence

ABCA1
NM_005502.4 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.695
Variant links:
Genes affected
ABCA1 (HGNC:29): (ATP binding cassette subfamily A member 1) The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway. Mutations in both alleles of this gene cause Tangier disease and familial high-density lipoprotein (HDL) deficiency. [provided by RefSeq, Sep 2019]

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -11 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.42).
BP6
Variant 9-104796778-G-A is Benign according to our data. Variant chr9-104796778-G-A is described in Lovd as [Benign].
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.976 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE UniProt
ABCA1NM_005502.4 linkuse as main transcriptc.5122-354C>T intron_variant ENST00000374736.8

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Appris UniProt
ABCA1ENST00000374736.8 linkuse as main transcriptc.5122-354C>T intron_variant 1 NM_005502.4 P1
ABCA1ENST00000678995.1 linkuse as main transcriptc.5128-354C>T intron_variant

Frequencies

GnomAD3 genomes
AF:
0.865
AC:
131506
AN:
152012
Hom.:
57092
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.785
Gnomad AMI
AF:
0.977
Gnomad AMR
AF:
0.905
Gnomad ASJ
AF:
0.850
Gnomad EAS
AF:
0.999
Gnomad SAS
AF:
0.867
Gnomad FIN
AF:
0.910
Gnomad MID
AF:
0.826
Gnomad NFE
AF:
0.887
Gnomad OTH
AF:
0.861
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.865
AC:
131612
AN:
152130
Hom.:
57143
Cov.:
32
AF XY:
0.867
AC XY:
64508
AN XY:
74372
show subpopulations
Gnomad4 AFR
AF:
0.785
Gnomad4 AMR
AF:
0.905
Gnomad4 ASJ
AF:
0.850
Gnomad4 EAS
AF:
0.999
Gnomad4 SAS
AF:
0.867
Gnomad4 FIN
AF:
0.910
Gnomad4 NFE
AF:
0.887
Gnomad4 OTH
AF:
0.862
Alfa
AF:
0.879
Hom.:
49298
Bravo
AF:
0.861
Asia WGS
AF:
0.943
AC:
3278
AN:
3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.42
CADD
Benign
12
DANN
Benign
0.82

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.0
Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs2777799; hg19: chr9-107559059; API