rs4723430

Variant names:

• chr7-35508592-G-A
• rs4723430
• ENST00000441150.1:n.30+1642C>T

Your query was ambiguous. Multiple possible variants found:

• chr7-35508592-G-A
• chr7-35508592-G-C
• chr7-35508592-G-T

Variant summary

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

The ENST00000441150.1(ENSG00000235464):​n.30+1642C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.901 in 152,264 control chromosomes in the GnomAD database, including 61,933 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 0.90 (61933 hom., cov: 32)
• Consequence: ENSG00000235464 ENST00000441150.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.625
• Publications: 1 publications found

Genes affected

ENSG00000235464 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.949 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000441150.1. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ENSG00000235464	ENST00000441150.1	TSL:4	n.30+1642C>T		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.901 AC: 137043 AN: 152146 Hom.: 61879 Cov.: 32

Gnomad AFR AF: 0.957

Gnomad AMI AF: 0.749

Gnomad AMR AF: 0.895

Gnomad ASJ AF: 0.841

Gnomad EAS AF: 0.789

Gnomad SAS AF: 0.955

Gnomad FIN AF: 0.934

Gnomad MID AF: 0.842

Gnomad NFE AF: 0.873

Gnomad OTH AF: 0.883

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

GnomAD4 genome AF: 0.901 AC: 137156 AN: 152264 Hom.: 61933 Cov.: 32 AF XY: 0.904 AC XY: 67342 AN XY: 74464

African (AFR) AF: 0.957 AC: 39777 AN: 41550

American (AMR) AF: 0.895 AC: 13694 AN: 15300

Ashkenazi Jewish (ASJ) AF: 0.841 AC: 2919 AN: 3472

East Asian (EAS) AF: 0.789 AC: 4091 AN: 5184

South Asian (SAS) AF: 0.954 AC: 4602 AN: 4822

European-Finnish (FIN) AF: 0.934 AC: 9907 AN: 10610

Middle Eastern (MID) AF: 0.833 AC: 245 AN: 294

European-Non Finnish (NFE) AF: 0.873 AC: 59372 AN: 68010

Other (OTH) AF: 0.884 AC: 1867 AN: 2112

Alfa AF: 0.882 Hom.: 86986

Bravo AF: 0.899

Asia WGS AF: 0.874 AC: 3039 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.30
DANN	Benign	0.30
PhyloP100		-0.63

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs4723430;

hg19: chr7-35548202;