1-66609892-G-A

Variant names:

• chr1-66609892-G-A
• rs10889635
• NM_032291.4:c.11-15955G>A

Variant summary

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

The NM_032291.4(SGIP1):​c.11-15955G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.659 in 152,022 control chromosomes in the GnomAD database, including 33,981 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 0.66 (33981 hom., cov: 32)
• Consequence: SGIP1 NM_032291.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.59
• Publications: 4 publications found

Genes affected

SGIP1 (HGNC:25412): (SH3GL interacting endocytic adaptor 1) SGIP1 functions as an endocytic protein that affects signaling by receptors in neuronal systems involved in energy homeostasis via its interaction with endophilins (see SH3GL3; MIM 603362) (Trevaskis et al., 2005 [PubMed 15919751] and Uezu et al., 2007 [PubMed 17626015]).[supplied by OMIM, Mar 2008]

LOC124904196 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.976 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_032291.4. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	SGIP1	NM_032291.4	MANE Select	c.11-15955G>A		intron	N/A	NP_115667.2
	SGIP1	NM_001350217.2		c.11-15955G>A		intron	N/A	NP_001337146.1
	SGIP1	NM_001376534.1		c.11-15955G>A		intron	N/A	NP_001363463.1

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	SGIP1	ENST00000371037.9	TSL:1 MANE Select	c.11-15955G>A		intron	N/A	ENSP00000360076.3
	SGIP1	ENST00000371039.5	TSL:1	c.11-15955G>A		intron	N/A	ENSP00000360078.1
	SGIP1	ENST00000237247.10	TSL:5	c.11-15955G>A		intron	N/A	ENSP00000237247.6

Frequencies

GnomAD3 genomes AF: 0.659 AC: 100030 AN: 151904 Hom.: 33939 Cov.: 32

Gnomad AFR AF: 0.745

Gnomad AMI AF: 0.625

Gnomad AMR AF: 0.726

Gnomad ASJ AF: 0.618

Gnomad EAS AF: 0.998

Gnomad SAS AF: 0.888

Gnomad FIN AF: 0.518

Gnomad MID AF: 0.661

Gnomad NFE AF: 0.573

Gnomad OTH AF: 0.645

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

GnomAD4 genome AF: 0.659 AC: 100134 AN: 152022 Hom.: 33981 Cov.: 32 AF XY: 0.661 AC XY: 49136 AN XY: 74316

African (AFR) AF: 0.745 AC: 30916 AN: 41474

American (AMR) AF: 0.727 AC: 11097 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.618 AC: 2146 AN: 3470

East Asian (EAS) AF: 0.998 AC: 5180 AN: 5188

South Asian (SAS) AF: 0.887 AC: 4282 AN: 4826

European-Finnish (FIN) AF: 0.518 AC: 5460 AN: 10538

Middle Eastern (MID) AF: 0.650 AC: 191 AN: 294

European-Non Finnish (NFE) AF: 0.573 AC: 38919 AN: 67936

Other (OTH) AF: 0.650 AC: 1373 AN: 2112

Alfa AF: 0.610 Hom.: 14744

Bravo AF: 0.673

Asia WGS AF: 0.931 AC: 3237 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	0.045
DANN	Benign	0.19
PhyloP100		-1.6
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: rs10889635; hg19: chr1-67075575;