rs16969478

Variant names:

• chr15-39638752-C-G
• rs16969478
• NM_152597.5:c.1189-20507G>C

Your query was ambiguous. Multiple possible variants found:

• chr15-39638752-C-G
• chr15-39638752-C-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_152597.5(FSIP1):​c.1189-20507G>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.181 in 151,844 control chromosomes in the GnomAD database, including 3,040 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 0.18 (3040 hom., cov: 32)
• Consequence: FSIP1 NM_152597.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.00600
• Publications: 1 publications found

Genes affected

FSIP1 (HGNC:21674): (fibrous sheath interacting protein 1)

ENSG00000294097 (HGNC:):

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.308 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
FSIP1	NM_152597.5	c.1189-20507G>C		intron_variant	Intron 10 of 11	ENST00000350221.4	NP_689810.3

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
FSIP1	ENST00000350221.4	c.1189-20507G>C		intron_variant	Intron 10 of 11	1	NM_152597.5	ENSP00000280236.3
ENSG00000294097	ENST00000720950.1	n.403-1823C>G		intron_variant	Intron 2 of 3
ENSG00000294097	ENST00000720951.1	n.396-1823C>G		intron_variant	Intron 2 of 2
ENSG00000294097	ENST00000720954.1	n.223+214C>G		intron_variant	Intron 1 of 1

Frequencies

GnomAD3 genomes AF: 0.181 AC: 27476 AN: 151724 Hom.: 3023 Cov.: 32

Gnomad AFR AF: 0.286

Gnomad AMI AF: 0.125

Gnomad AMR AF: 0.157

Gnomad ASJ AF: 0.118

Gnomad EAS AF: 0.321

Gnomad SAS AF: 0.181

Gnomad FIN AF: 0.198

Gnomad MID AF: 0.206

Gnomad NFE AF: 0.114

Gnomad OTH AF: 0.179

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

GnomAD4 genome AF: 0.181 AC: 27529 AN: 151844 Hom.: 3040 Cov.: 32 AF XY: 0.185 AC XY: 13745 AN XY: 74186

African (AFR) AF: 0.287 AC: 11860 AN: 41320

American (AMR) AF: 0.156 AC: 2389 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.118 AC: 410 AN: 3472

East Asian (EAS) AF: 0.321 AC: 1649 AN: 5136

South Asian (SAS) AF: 0.180 AC: 867 AN: 4818

European-Finnish (FIN) AF: 0.198 AC: 2081 AN: 10536

Middle Eastern (MID) AF: 0.204 AC: 60 AN: 294

European-Non Finnish (NFE) AF: 0.114 AC: 7724 AN: 67976

Other (OTH) AF: 0.178 AC: 375 AN: 2106

Alfa AF: 0.0674 Hom.: 86

Bravo AF: 0.186

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	1.0
DANN	Benign	0.34
PhyloP100		0.0060
Mutation Taster		=100/0	polymorphism (auto)

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

Other links and lift over

dbSNP: rs16969478; hg19: chr15-39930953;