rs6151281

Variant names:

• chrX-32385620-T-TAATTTTAAAACATCAAAGCTCTA
• rs6151281
• NM_004006.3:c.4674+689_4674+690insTAGAGCTTTGATGTTTTAAAATT

Your query was ambiguous. Multiple possible variants found:

• chrX-32385620-T-TAATTTTAAAACATCAAAGCTCTA
• chrX-32385620-T-TAATTTTAAACCATCAAACCTCTA
• chrX-32385620-T-TAATTTTAAACCATCAAAGCTCTA
• chrX-32385620-T-TAATTTTAAATCATCAAAGCTCTA
• chrX-32385620-T-TAATTTTACACCATCAAAGCTCTA

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.

The NM_004006.3(DMD):​c.4674+689_4674+690insTAGAGCTTTGATGTTTTAAAATT variant causes a intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.000018 (0 hom., 0 hem., cov: 0)
• Consequence: DMD NM_004006.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0830

Genes affected

DMD (HGNC:2928): (dystrophin) This gene spans a genomic range of greater than 2 Mb and encodes a large protein containing an N-terminal actin-binding domain and multiple spectrin repeats. The encoded protein forms a component of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix. Deletions, duplications, and point mutations at this gene locus may cause Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or cardiomyopathy. Alternative promoter usage and alternative splicing result in numerous distinct transcript variants and protein isoforms for this gene. [provided by RefSeq, Dec 2016]

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
DMD	NM_004006.3	c.4674+689_4674+690insTAGAGCTTTGATGTTTTAAAATT		intron_variant	Intron 33 of 78	ENST00000357033.9	NP_003997.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
DMD	ENST00000357033.9	c.4674+689_4674+690insTAGAGCTTTGATGTTTTAAAATT		intron_variant	Intron 33 of 78	1	NM_004006.3	ENSP00000354923.3

Frequencies

GnomAD3 genomes AF: 0.0000185 AC: 2 AN: 108342 Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0 AN XY: 31156

Gnomad AFR AF: 0.00

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.000199

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.00

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.00

Gnomad OTH AF: 0.00

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

GnomAD4 genome AF: 0.0000185 AC: 2 AN: 108342 Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0 AN XY: 31156

Gnomad4 AFR AF: 0.00

Gnomad4 AMR AF: 0.000199

Gnomad4 ASJ AF: 0.00

Gnomad4 EAS AF: 0.00

Gnomad4 SAS AF: 0.00

Gnomad4 FIN AF: 0.00

Gnomad4 NFE AF: 0.00

Gnomad4 OTH AF: 0.00

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6151281; hg19: chrX-32403737;