2-195897767-TAAAAAAAA-T

Variant names:

• chr2-195897767-TAAAAAAAA-T
• NM_018897.3:c.4549-10_4549-3delTTTTTTTT

Variant summary

Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2

The NM_018897.3(DNAH7):​c.4549-10_4549-3delTTTTTTTT variant causes a splice region, intron change. The variant allele was found at a frequency of 0.00000098 in 1,020,860 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: not found (cov: 16)
  • Exomes 𝑓: 9.8e-7 (0 hom.)
• Consequence: DNAH7 NM_018897.3 splice_region, intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 3.59

Genes affected

DNAH7 (HGNC:18661): (dynein axonemal heavy chain 7) DNAH7 is a component of the inner dynein arm of ciliary axonemes (Zhang et al., 2002 [PubMed 11877439]).[supplied by OMIM, Mar 2008]

ACMG classification

Verdict is Uncertain_significance. Variant got 2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
DNAH7	NM_018897.3	c.4549-10_4549-3delTTTTTTTT		splice_region_variant, intron_variant	Intron 28 of 64	ENST00000312428.11	NP_061720.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
DNAH7	ENST00000312428.11	c.4549-10_4549-3delTTTTTTTT		splice_region_variant, intron_variant	Intron 28 of 64	1	NM_018897.3	ENSP00000311273.6
DNAH7	ENST00000475293.1	n.5482-10_5482-3delTTTTTTTT		splice_region_variant, intron_variant	Intron 1 of 2	1

Frequencies

GnomAD3 genomes Cov.: 16

GnomAD4 exome AF: 9.80e-7 AC: 1 AN: 1020860 Hom.: 0 AF XY: 0.00 AC XY: 0 AN XY: 516148

Gnomad4 AFR exome AF: 0.00

Gnomad4 AMR exome AF: 0.00

Gnomad4 ASJ exome AF: 0.00

Gnomad4 EAS exome AF: 0.00

Gnomad4 SAS exome AF: 0.00

Gnomad4 FIN exome AF: 0.00

Gnomad4 NFE exome AF: 0.00000129

Gnomad4 OTH exome AF: 0.00

GnomAD4 genome Cov.: 16

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

No publications associated with this variant yet.

Other links and lift over

hg19: chr2-196762491;