rs3960787

Positions:

• chr4-102995560-A-G

Variant summary

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

The NM_139173.4(SLC9B1):​c.-1-3848T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0903 in 152,214 control chromosomes in the GnomAD database, including 802 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 0.090 (802 hom., cov: 32)
• Consequence: SLC9B1 NM_139173.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.89

Genes affected

SLC9B1 (HGNC:24244): (solute carrier family 9 member B1) The protein encoded by this gene is a sodium/hydrogen exchanger and transmembrane protein. Highly conserved orthologs of this gene have been found in other mammalian species. The expression of this gene may be limited to testis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.144 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
SLC9B1	NM_139173.4	c.-1-3848T>C		intron_variant		ENST00000296422.12	NP_631912.3
SLC9B1	NM_001100874.3	c.-1-3848T>C		intron_variant			NP_001094344.2
SLC9B1	NR_047513.2	n.108-3848T>C		intron_variant, non_coding_transcript_variant
SLC9B1	NR_047515.2	n.108-3848T>C		intron_variant, non_coding_transcript_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
SLC9B1	ENST00000296422.12	c.-1-3848T>C		intron_variant		1	NM_139173.4	ENSP00000296422	P1

Frequencies

GnomAD3 genomes AF: 0.0904 AC: 13745 AN: 152096 Hom.: 801 Cov.: 32

Gnomad AFR AF: 0.0314

Gnomad AMI AF: 0.260

Gnomad AMR AF: 0.149

Gnomad ASJ AF: 0.131

Gnomad EAS AF: 0.0611

Gnomad SAS AF: 0.0867

Gnomad FIN AF: 0.0753

Gnomad MID AF: 0.0886

Gnomad NFE AF: 0.113

Gnomad OTH AF: 0.118

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

GnomAD4 genome AF: 0.0903 AC: 13744 AN: 152214 Hom.: 802 Cov.: 32 AF XY: 0.0904 AC XY: 6727 AN XY: 74432

Gnomad4 AFR AF: 0.0313

Gnomad4 AMR AF: 0.149

Gnomad4 ASJ AF: 0.131

Gnomad4 EAS AF: 0.0610

Gnomad4 SAS AF: 0.0870

Gnomad4 FIN AF: 0.0753

Gnomad4 NFE AF: 0.113

Gnomad4 OTH AF: 0.117

Alfa AF: 0.106 Hom.: 405

Bravo AF: 0.0933

Asia WGS AF: 0.0720 AC: 249 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	7.3
DANN	Benign	0.79

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: rs3960787; hg19: chr4-103916717;