rs2330929

Variant names:

• chr22-24823963-T-A
• rs2330929
• NM_001098497.3:c.63+17479T>A

Your query was ambiguous. Multiple possible variants found:

• chr22-24823963-T-A
• chr22-24823963-T-C
• chr22-24823963-T-G

Variant summary

Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2 BP4_Strong

The NM_001098497.3(SGSM1):​c.63+17479T>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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: not found (cov: 32)
• Consequence: SGSM1 NM_001098497.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.55
• Publications: 2 publications found

Genes affected

SGSM1 (HGNC:29410): (small G protein signaling modulator 1) Enables GTPase activator activity and small GTPase binding activity. Predicted to be involved in activation of GTPase activity and intracellular protein transport. Predicted to act upstream of or within positive regulation of transcription by RNA polymerase II. Located in cytoplasmic vesicle membrane and cytosol. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Our verdict: Likely_benign. The variant received -2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.74).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
SGSM1	NM_001098497.3	c.63+17479T>A		intron_variant	Intron 2 of 24	ENST00000400358.9	NP_001091967.1
SGSM1	NM_001039948.4	c.63+17479T>A		intron_variant	Intron 2 of 25		NP_001035037.1
SGSM1	NM_133454.4	c.63+17479T>A		intron_variant	Intron 2 of 24		NP_597711.1
SGSM1	NM_001098498.3	c.63+17479T>A		intron_variant	Intron 2 of 23		NP_001091968.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
SGSM1	ENST00000400358.9	c.63+17479T>A		intron_variant	Intron 2 of 24	1	NM_001098497.3	ENSP00000383211.4
SGSM1	ENST00000400359.4	c.63+17479T>A		intron_variant	Intron 2 of 25	5		ENSP00000383212.4
SGSM1	ENST00000610372.4	c.63+17479T>A		intron_variant	Intron 2 of 24	5		ENSP00000484682.1

Frequencies

GnomAD3 genomes Cov.: 32

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

GnomAD4 genome Cov.: 32

Alfa AF: 0.00 Hom.: 11571

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.74
CADD	Benign	0.34
DANN	Benign	0.89
PhyloP100		-2.6

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: rs2330929; hg19: chr22-25219930;