rs1491079737

Variant names:

• chr6-38722577-G-GT
• rs1491079737
• NM_001206927.2:c.-34-199_-34-198insT

Your query was ambiguous. Multiple possible variants found:

• chr6-38722577-G-GT
• chr6-38722577-G-GTGC
• chr6-38722577-G-GTGT
• chr6-38722577-G-GTGTGT
• chr6-38722577-G-GTGTGTGT
• chr6-38722577-G-GTGTGTGTGT
• chr6-38722577-G-GTGTGTGTGTGT
• chr6-38722577-G-GTGTGTGTGTGTGT

Variant summary

Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1

The NM_001206927.2(DNAH8):​c.-34-199_-34-198insT variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.127 in 150,856 control chromosomes in the GnomAD database, including 1,288 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.13 (1288 hom., cov: 30)
• Consequence: DNAH8 NM_001206927.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.160

Genes affected

DNAH8 (HGNC:2952): (dynein axonemal heavy chain 8) The protein encoded by this gene is a heavy chain of an axonemal dynein involved in sperm and respiratory cilia motility. Axonemal dyneins generate force through hydrolysis of ATP and binding to microtubules. [provided by RefSeq, Jan 2012]

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.212 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
DNAH8	NM_001206927.2	c.-34-199_-34-198insT		intron_variant	Intron 1 of 92	ENST00000327475.11	NP_001193856.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
DNAH8	ENST00000327475.11	c.-34-199_-34-198insT		intron_variant	Intron 1 of 92	5	NM_001206927.2	ENSP00000333363.7
DNAH8	ENST00000373278.8	c.-34-199_-34-198insT		intron_variant	Intron 1 of 4	1		ENSP00000362375.4

Frequencies

GnomAD3 genomes AF: 0.126 AC: 19068 AN: 150744 Hom.: 1281 Cov.: 30

Gnomad AFR AF: 0.125

Gnomad AMI AF: 0.0341

Gnomad AMR AF: 0.217

Gnomad ASJ AF: 0.150

Gnomad EAS AF: 0.0543

Gnomad SAS AF: 0.0532

Gnomad FIN AF: 0.0805

Gnomad MID AF: 0.123

Gnomad NFE AF: 0.125

Gnomad OTH AF: 0.130

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

GnomAD4 genome AF: 0.127 AC: 19093 AN: 150856 Hom.: 1288 Cov.: 30 AF XY: 0.125 AC XY: 9238 AN XY: 73632

Gnomad4 AFR AF: 0.125

Gnomad4 AMR AF: 0.218

Gnomad4 ASJ AF: 0.150

Gnomad4 EAS AF: 0.0545

Gnomad4 SAS AF: 0.0522

Gnomad4 FIN AF: 0.0805

Gnomad4 NFE AF: 0.125

Gnomad4 OTH AF: 0.133

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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

Other links and lift over

dbSNP: rs1491079737; hg19: chr6-38690353;