rs272000

Variant names:

• chr2-115898219-G-C
• rs272000
• ENST00000668438.1:n.361-2636C>G

Variant summary

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

The ENST00000668438.1(ENSG00000287451):​n.361-2636C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.543 in 151,946 control chromosomes in the GnomAD database, including 23,661 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 0.54 (23661 hom., cov: 32)
• Consequence: ENSG00000287451 ENST00000668438.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.611
• Publications: 12 publications found

Genes affected

ENSG00000287451 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.644 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000668438.1. 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
	ENSG00000287451	ENST00000668438.1		n.361-2636C>G		intron	N/A
	ENSG00000287451	ENST00000773149.1		n.120-2636C>G		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.543 AC: 82480 AN: 151828 Hom.: 23653 Cov.: 32

Gnomad AFR AF: 0.359

Gnomad AMI AF: 0.499

Gnomad AMR AF: 0.655

Gnomad ASJ AF: 0.633

Gnomad EAS AF: 0.632

Gnomad SAS AF: 0.536

Gnomad FIN AF: 0.622

Gnomad MID AF: 0.522

Gnomad NFE AF: 0.607

Gnomad OTH AF: 0.567

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

GnomAD4 genome AF: 0.543 AC: 82517 AN: 151946 Hom.: 23661 Cov.: 32 AF XY: 0.545 AC XY: 40429 AN XY: 74246

African (AFR) AF: 0.359 AC: 14874 AN: 41454

American (AMR) AF: 0.655 AC: 10000 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.633 AC: 2197 AN: 3470

East Asian (EAS) AF: 0.632 AC: 3248 AN: 5136

South Asian (SAS) AF: 0.534 AC: 2572 AN: 4812

European-Finnish (FIN) AF: 0.622 AC: 6553 AN: 10538

Middle Eastern (MID) AF: 0.507 AC: 149 AN: 294

European-Non Finnish (NFE) AF: 0.607 AC: 41279 AN: 67962

Other (OTH) AF: 0.567 AC: 1192 AN: 2104

Alfa AF: 0.568 Hom.: 3134

Bravo AF: 0.539

Asia WGS AF: 0.548 AC: 1907 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	2.8
DANN	Benign	0.63
PhyloP100		0.61

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: rs272000;

hg19: chr2-116655795;