rs4147549

Variant names:

• chr4-99434855-G-A
• rs4147549
• NM_000673.7:c.18+361C>T

Your query was ambiguous. Multiple possible variants found:

• chr4-99434855-G-A
• chr4-99434855-G-T

Variant summary

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

The NM_000673.7(ADH7):​c.18+361C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0555 in 152,146 control chromosomes in the GnomAD database, including 468 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 0.056 (468 hom., cov: 32)
• Consequence: ADH7 NM_000673.7 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0860
• Publications: 2 publications found

Genes affected

ADH7 (HGNC:256): (alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide) This gene encodes class IV alcohol dehydrogenase 7 mu or sigma subunit, which is a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. The enzyme encoded by this gene is inefficient in ethanol oxidation, but is the most active as a retinol dehydrogenase; thus it may participate in the synthesis of retinoic acid, a hormone important for cellular differentiation. The expression of this gene is much more abundant in stomach than liver, thus differing from the other known gene family members. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.134 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
ADH7	NM_000673.7	c.18+361C>T		intron_variant	Intron 1 of 8	ENST00000437033.7	NP_000664.3
ADH7	NM_001166504.2	c.78+172C>T		intron_variant	Intron 1 of 8		NP_001159976.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ADH7	ENST00000437033.7	c.18+361C>T		intron_variant	Intron 1 of 8	1	NM_000673.7	ENSP00000414254.2
ADH7	ENST00000209665.8	c.54+361C>T		intron_variant	Intron 1 of 8	1		ENSP00000209665.4
ADH7	ENST00000476959.5	c.78+172C>T		intron_variant	Intron 1 of 8	2		ENSP00000420269.1
ADH7	ENST00000482593.5	c.-267+361C>T		intron_variant	Intron 1 of 9	3		ENSP00000420613.1

Frequencies

GnomAD3 genomes AF: 0.0554 AC: 8419 AN: 152028 Hom.: 466 Cov.: 32

Gnomad AFR AF: 0.137

Gnomad AMI AF: 0.0351

Gnomad AMR AF: 0.0442

Gnomad ASJ AF: 0.00950

Gnomad EAS AF: 0.119

Gnomad SAS AF: 0.0526

Gnomad FIN AF: 0.0119

Gnomad MID AF: 0.0253

Gnomad NFE AF: 0.0138

Gnomad OTH AF: 0.0368

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

GnomAD4 genome AF: 0.0555 AC: 8447 AN: 152146 Hom.: 468 Cov.: 32 AF XY: 0.0548 AC XY: 4076 AN XY: 74396

African (AFR) AF: 0.137 AC: 5682 AN: 41480

American (AMR) AF: 0.0442 AC: 674 AN: 15260

Ashkenazi Jewish (ASJ) AF: 0.00950 AC: 33 AN: 3472

East Asian (EAS) AF: 0.119 AC: 615 AN: 5178

South Asian (SAS) AF: 0.0527 AC: 254 AN: 4824

European-Finnish (FIN) AF: 0.0119 AC: 126 AN: 10602

Middle Eastern (MID) AF: 0.0238 AC: 7 AN: 294

European-Non Finnish (NFE) AF: 0.0138 AC: 941 AN: 68008

Other (OTH) AF: 0.0392 AC: 83 AN: 2116

Alfa AF: 0.0233 Hom.: 202

Bravo AF: 0.0617

Asia WGS AF: 0.0880 AC: 305 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	4.0
DANN	Benign	0.55
PhyloP100		-0.086
PromoterAI		-0.014	Neutral
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: rs4147549; hg19: chr4-100356012;