rs1749718

Positions:

• chr14-90716983-C-T

Variant summary

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

The NM_001010854.2(TTC7B):​c.698+13092G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.491 in 151,864 control chromosomes in the GnomAD database, including 19,042 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 0.49 (19042 hom., cov: 31)
• Consequence: TTC7B NM_001010854.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.39

Genes affected

TTC7B (HGNC:19858): (tetratricopeptide repeat domain 7B) Involved in phosphatidylinositol phosphate biosynthetic process and protein localization to plasma membrane. Located in cytosol and plasma membrane. [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=-0.96).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.581 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
TTC7B	NM_001010854.2	c.698+13092G>A		intron_variant		ENST00000328459.11	NP_001010854.1
TTC7B	NM_001320421.2	c.392+13092G>A		intron_variant			NP_001307350.1
TTC7B	NM_001401365.1	c.698+13092G>A		intron_variant			NP_001388294.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
TTC7B	ENST00000328459.11	c.698+13092G>A		intron_variant		1	NM_001010854.2	ENSP00000336127	P1
TTC7B	ENST00000557766.1	c.392+13092G>A		intron_variant		3		ENSP00000451238

Frequencies

GnomAD3 genomes AF: 0.491 AC: 74445 AN: 151746 Hom.: 19002 Cov.: 31

Gnomad AFR AF: 0.586

Gnomad AMI AF: 0.570

Gnomad AMR AF: 0.493

Gnomad ASJ AF: 0.389

Gnomad EAS AF: 0.0932

Gnomad SAS AF: 0.372

Gnomad FIN AF: 0.467

Gnomad MID AF: 0.452

Gnomad NFE AF: 0.479

Gnomad OTH AF: 0.479

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

GnomAD4 genome AF: 0.491 AC: 74551 AN: 151864 Hom.: 19042 Cov.: 31 AF XY: 0.488 AC XY: 36215 AN XY: 74196

Gnomad4 AFR AF: 0.587

Gnomad4 AMR AF: 0.493

Gnomad4 ASJ AF: 0.389

Gnomad4 EAS AF: 0.0933

Gnomad4 SAS AF: 0.372

Gnomad4 FIN AF: 0.467

Gnomad4 NFE AF: 0.479

Gnomad4 OTH AF: 0.481

Alfa AF: 0.470 Hom.: 33773

Bravo AF: 0.496

Asia WGS AF: 0.279 AC: 972 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	0.12
DANN	Benign	0.35

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: rs1749718; hg19: chr14-91183327;