ABCA10 p.Arg1322*

Variant names:

Your query was ambiguous. Multiple possible variants found:

Variant summary

Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM4

The NM_001377321.1(ABCA10):c.3964_4042delCGGTACAGAGAGAAGTCTCACAATTTGTAGCAGGAGGAAGGGGAAAATATGTCATTTCTTCATTATATATTAAAAGGAAATTATAAACAATGTCTTTAAATTTTCATGCAAATAAAATGATTCAAATACCTGAATAAGAACCAAATCATAAGATTTAGCATTTATGAAAACGTTAAGGAAGCTTAAATTTACTATCTAGAATAATAGTGCTTAGAGTTTCCTACAGTTGTTTTAGATAGGTCCATTTGCCATATACTTCATGTATAATCACACTGTTTTTTGTCAGATTGGTGGAAGCTCTTAAGCTCCAGGAACAACTTAAGGCTCCTGTGAAAACTCTATCAGAGGGAATAAAGAGAAAGGTATGGGCCAGGCTCGGGGTTTCCCTGTGCACCCATGGCTGGGTGCCGACGGGCTGTTCCTTGCATTGCAGCinsTAA(p.Arg1322_Leu1348delins???) variant causes a exon loss, missense, conservative inframe deletion change. The variant was absent in control chromosomes in GnomAD project. It is difficult to determine the true allele frequency of this variant because it is of type DEL_BIG, and the frequency of such variant types in population databases may be underestimated and unreliable. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: not found (cov: 32)

Consequence

ABCA10
NM_001377321.1 exon_loss, missense, conservative_inframe_deletion

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 5.40

Publications

0 publications found

Variant links:

Genes affected

ABCA10 (HGNC:30): (ATP binding cassette subfamily A member 10) 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, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. [provided by RefSeq, Jul 2008]

ABCA10 links:

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new If you want to explore the variant's impact on the transcript NM_001377321.1, check out the Mutation Effect Viewer. This is especially useful for frameshift variants or if you want to visualize the effect of exon loss / intron retention.

ACMG classification

Classification was made for transcript

Our verdict: Uncertain_significance. The variant received 2 ACMG points.

PM4

Nonframeshift variant in NON repetitive region in NM_001377321.1.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001377321.1. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ABCA10	NM_001377321.1	MANE Select	c.3964_4042delCGGTACAGAGAGAAGTCTCACAATTTGTAGCAGGAGGAAGGGGAAAATATGTCATTTCTTCATTATATATTAAAAGGAAATTATAAACAATGTCTTTAAATTTTCATGCAAATAAAATGATTCAAATACCTGAATAAGAACCAAATCATAAGATTTAGCATTTATGAAAACGTTAAGGAAGCTTAAATTTACTATCTAGAATAATAGTGCTTAGAGTTTCCTACAGTTGTTTTAGATAGGTCCATTTGCCATATACTTCATGTATAATCACACTGTTTTTTGTCAGATTGGTGGAAGCTCTTAAGCTCCAGGAACAACTTAAGGCTCCTGTGAAAACTCTATCAGAGGGAATAAAGAGAAAGGTATGGGCCAGGCTCGGGGTTTCCCTGTGCACCCATGGCTGGGTGCCGACGGGCTGTTCCTTGCATTGCAGCinsTAA	p.Arg1322_Leu1348delins???	exon_loss missense conservative_inframe_deletion	Exon 33 of 39	NP_001364250.1	Q8WWZ4-1
	ABCA10	NM_080282.4		c.3964_4042delCGGTACAGAGAGAAGTCTCACAATTTGTAGCAGGAGGAAGGGGAAAATATGTCATTTCTTCATTATATATTAAAAGGAAATTATAAACAATGTCTTTAAATTTTCATGCAAATAAAATGATTCAAATACCTGAATAAGAACCAAATCATAAGATTTAGCATTTATGAAAACGTTAAGGAAGCTTAAATTTACTATCTAGAATAATAGTGCTTAGAGTTTCCTACAGTTGTTTTAGATAGGTCCATTTGCCATATACTTCATGTATAATCACACTGTTTTTTGTCAGATTGGTGGAAGCTCTTAAGCTCCAGGAACAACTTAAGGCTCCTGTGAAAACTCTATCAGAGGGAATAAAGAGAAAGGTATGGGCCAGGCTCGGGGTTTCCCTGTGCACCCATGGCTGGGTGCCGACGGGCTGTTCCTTGCATTGCAGCinsTAA	p.Arg1322_Leu1348delins???	exon_loss missense conservative_inframe_deletion	Exon 34 of 40	NP_525021.3

Ensembl Transcripts

Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
ABCA10	ENST00000690296.1	MANE Select	c.3964_4042delCGGTACAGAGAGAAGTCTCACAATTTGTAGCAGGAGGAAGGGGAAAATATGTCATTTCTTCATTATATATTAAAAGGAAATTATAAACAATGTCTTTAAATTTTCATGCAAATAAAATGATTCAAATACCTGAATAAGAACCAAATCATAAGATTTAGCATTTATGAAAACGTTAAGGAAGCTTAAATTTACTATCTAGAATAATAGTGCTTAGAGTTTCCTACAGTTGTTTTAGATAGGTCCATTTGCCATATACTTCATGTATAATCACACTGTTTTTTGTCAGATTGGTGGAAGCTCTTAAGCTCCAGGAACAACTTAAGGCTCCTGTGAAAACTCTATCAGAGGGAATAAAGAGAAAGGTATGGGCCAGGCTCGGGGTTTCCCTGTGCACCCATGGCTGGGTGCCGACGGGCTGTTCCTTGCATTGCAGCinsTAA	p.Arg1322_Leu1348delins???	exon_loss missense conservative_inframe_deletion	Exon 33 of 39	ENSP00000509702.1	Q8WWZ4-1
ABCA10	ENST00000269081.8	TSL:1	c.3964_4042delCGGTACAGAGAGAAGTCTCACAATTTGTAGCAGGAGGAAGGGGAAAATATGTCATTTCTTCATTATATATTAAAAGGAAATTATAAACAATGTCTTTAAATTTTCATGCAAATAAAATGATTCAAATACCTGAATAAGAACCAAATCATAAGATTTAGCATTTATGAAAACGTTAAGGAAGCTTAAATTTACTATCTAGAATAATAGTGCTTAGAGTTTCCTACAGTTGTTTTAGATAGGTCCATTTGCCATATACTTCATGTATAATCACACTGTTTTTTGTCAGATTGGTGGAAGCTCTTAAGCTCCAGGAACAACTTAAGGCTCCTGTGAAAACTCTATCAGAGGGAATAAAGAGAAAGGTATGGGCCAGGCTCGGGGTTTCCCTGTGCACCCATGGCTGGGTGCCGACGGGCTGTTCCTTGCATTGCAGCinsTAA	p.Arg1322_Leu1348delins???	exon_loss missense conservative_inframe_deletion	Exon 34 of 40	ENSP00000269081.4	Q8WWZ4-1
ABCA10	ENST00000522406.5	TSL:1	n.2892_2970delCGGTACAGAGAGAAGTCTCACAATTTGTAGCAGGAGGAAGGGGAAAATATGTCATTTCTTCATTATATATTAAAAGGAAATTATAAACAATGTCTTTAAATTTTCATGCAAATAAAATGATTCAAATACCTGAATAAGAACCAAATCATAAGATTTAGCATTTATGAAAACGTTAAGGAAGCTTAAATTTACTATCTAGAATAATAGTGCTTAGAGTTTCCTACAGTTGTTTTAGATAGGTCCATTTGCCATATACTTCATGTATAATCACACTGTTTTTTGTCAGATTGGTGGAAGCTCTTAAGCTCCAGGAACAACTTAAGGCTCCTGTGAAAACTCTATCAGAGGGAATAAAGAGAAAGGTATGGGCCAGGCTCGGGGTTTCCCTGTGCACCCATGGCTGGGTGCCGACGGGCTGTTCCTTGCATTGCAGCinsTAA		exon_loss conservative_inframe_deletion synonymous	Exon 35 of 41	ENSP00000429853.1	Q8WWZ4-5

Frequencies

GnomAD3 genomes

Cov.:

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome

Cov.:

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name

Calibrated prediction

Score

Prediction

PhyloP100

5.4

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Publications

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Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

Publications

ACMG classification

Variant Effect in Transcripts

RefSeq Transcripts

Ensembl Transcripts

Frequencies

ClinVar

Computational scores

Splicing

Publications

Other links and lift over