rs16842717

chr2-195945643-G-A

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_018897.3(DNAH7):c.3079-8851C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.158 in 152,072 control chromosomes in the GnomAD database, including 2,322 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.16 (2322 hom., cov: 32)
• Consequence: DNAH7 NM_018897.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 2.14

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 Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.263 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
DNAH7	NM_018897.3	c.3079-8851C>T		intron_variant		ENST00000312428.11

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
DNAH7	ENST00000312428.11	c.3079-8851C>T		intron_variant		1	NM_018897.3	P1

Frequencies

GnomAD3 genomes AF: 0.158 AC: 24034 AN: 151954 Hom.: 2319 Cov.: 32

Gnomad AFR AF: 0.267

Gnomad AMI AF: 0.121

Gnomad AMR AF: 0.115

Gnomad ASJ AF: 0.145

Gnomad EAS AF: 0.00116

Gnomad SAS AF: 0.0873

Gnomad FIN AF: 0.0810

Gnomad MID AF: 0.161

Gnomad NFE AF: 0.132

Gnomad OTH AF: 0.162

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

GnomAD4 genome AF: 0.158 AC: 24065 AN: 152072 Hom.: 2322 Cov.: 32 AF XY: 0.153 AC XY: 11399 AN XY: 74340

Gnomad4 AFR AF: 0.267

Gnomad4 AMR AF: 0.115

Gnomad4 ASJ AF: 0.145

Gnomad4 EAS AF: 0.00116

Gnomad4 SAS AF: 0.0874

Gnomad4 FIN AF: 0.0810

Gnomad4 NFE AF: 0.132

Gnomad4 OTH AF: 0.160

Alfa AF: 0.137 Hom.: 649

Bravo AF: 0.167

Asia WGS AF: 0.0560 AC: 196 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
Cadd	Benign	7.0
Dann	Benign	0.55

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: rs16842717; hg19: chr2-196810367;