rs916758

Positions:

• chr7-96096624-A-G

Variant summary

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

The NM_001135556.2(DYNC1I1):​c.1777-859A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.206 in 152,020 control chromosomes in the GnomAD database, including 3,709 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 0.21 (3709 hom., cov: 32)
• Consequence: DYNC1I1 NM_001135556.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.625

Genes affected

DYNC1I1 (HGNC:2963): (dynein cytoplasmic 1 intermediate chain 1) Enables spectrin binding activity. Involved in vesicle transport along microtubule. Located in several cellular components, including kinetochore; recycling endosome; and spindle pole. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.57).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.361 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
DYNC1I1	NM_001135556.2	c.1777-859A>G		intron_variant		ENST00000447467.6	NP_001129028.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
DYNC1I1	ENST00000447467.6	c.1777-859A>G		intron_variant		1	NM_001135556.2	ENSP00000392337	P3

Frequencies

GnomAD3 genomes AF: 0.206 AC: 31260 AN: 151902 Hom.: 3686 Cov.: 32

Gnomad AFR AF: 0.293

Gnomad AMI AF: 0.129

Gnomad AMR AF: 0.267

Gnomad ASJ AF: 0.0758

Gnomad EAS AF: 0.375

Gnomad SAS AF: 0.205

Gnomad FIN AF: 0.136

Gnomad MID AF: 0.152

Gnomad NFE AF: 0.146

Gnomad OTH AF: 0.192

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

GnomAD4 genome AF: 0.206 AC: 31341 AN: 152020 Hom.: 3709 Cov.: 32 AF XY: 0.208 AC XY: 15437 AN XY: 74296

Gnomad4 AFR AF: 0.293

Gnomad4 AMR AF: 0.268

Gnomad4 ASJ AF: 0.0758

Gnomad4 EAS AF: 0.375

Gnomad4 SAS AF: 0.205

Gnomad4 FIN AF: 0.136

Gnomad4 NFE AF: 0.146

Gnomad4 OTH AF: 0.200

Alfa AF: 0.155 Hom.: 4216

Bravo AF: 0.217

Asia WGS AF: 0.297 AC: 1033 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.57
CADD	Benign	10
DANN	Benign	0.61

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: rs916758; hg19: chr7-95725936;