rs231707

Variant names:

• chr4-2692658-A-G
• rs231707
• NM_001366318.2:c.2804-928A>G

Your query was ambiguous. Multiple possible variants found:

• chr4-2692658-A-G
• chr4-2692658-A-T

Variant summary

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

The ENST00000637812.2(FAM193A):​c.2804-928A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.817 in 152,156 control chromosomes in the GnomAD database, including 50,984 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 0.82 (50984 hom., cov: 32)
• Consequence: FAM193A ENST00000637812.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.222
• Publications: 10 publications found

Genes affected

FAM193A (HGNC:16822): (family with sequence similarity 193 member A)

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.873 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000637812.2. 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
	FAM193A	NM_001366318.2	MANE Select	c.2804-928A>G		intron	N/A	NP_001353247.1
	FAM193A	NM_001366316.2		c.2633-928A>G		intron	N/A	NP_001353245.1
	FAM193A	NM_001256666.2		c.1931-928A>G		intron	N/A	NP_001243595.1

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	FAM193A	ENST00000637812.2	TSL:5 MANE Select	c.2804-928A>G		intron	N/A	ENSP00000490564.1
	FAM193A	ENST00000324666.9	TSL:1	c.1931-928A>G		intron	N/A	ENSP00000324587.5
	FAM193A	ENST00000502458.5	TSL:1	c.1997-928A>G		intron	N/A	ENSP00000427505.1

Frequencies

GnomAD3 genomes AF: 0.817 AC: 124231 AN: 152038 Hom.: 50927 Cov.: 32

Gnomad AFR AF: 0.790

Gnomad AMI AF: 0.817

Gnomad AMR AF: 0.886

Gnomad ASJ AF: 0.835

Gnomad EAS AF: 0.677

Gnomad SAS AF: 0.871

Gnomad FIN AF: 0.834

Gnomad MID AF: 0.883

Gnomad NFE AF: 0.821

Gnomad OTH AF: 0.830

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

GnomAD4 genome AF: 0.817 AC: 124349 AN: 152156 Hom.: 50984 Cov.: 32 AF XY: 0.820 AC XY: 61013 AN XY: 74368

African (AFR) AF: 0.790 AC: 32780 AN: 41482

American (AMR) AF: 0.886 AC: 13555 AN: 15302

Ashkenazi Jewish (ASJ) AF: 0.835 AC: 2898 AN: 3472

East Asian (EAS) AF: 0.678 AC: 3508 AN: 5176

South Asian (SAS) AF: 0.872 AC: 4202 AN: 4820

European-Finnish (FIN) AF: 0.834 AC: 8823 AN: 10584

Middle Eastern (MID) AF: 0.891 AC: 262 AN: 294

European-Non Finnish (NFE) AF: 0.821 AC: 55813 AN: 67998

Other (OTH) AF: 0.833 AC: 1763 AN: 2116

Alfa AF: 0.829 Hom.: 68910

Bravo AF: 0.817

Asia WGS AF: 0.802 AC: 2790 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	2.6
DANN	Benign	0.74
PhyloP100		-0.22
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: rs231707; hg19: chr4-2694385;