2-38666535-G-A

Position:

• chr2-38666535-G-A

Variant summary

Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_Strong BP6_Moderate BA1

The NM_138801.3(GALM):​c.190+184G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.238 in 151,972 control chromosomes in the GnomAD database, including 6,351 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).

• Frequency: Genomes: 𝑓 0.24 (6351 hom., cov: 32)
• Consequence: GALM NM_138801.3 intron
• Clinical Significance: Benign criteria provided, single submitter B:1
• Conservation: PhyloP100: -0.819

Genes affected

GALM (HGNC:24063): (galactose mutarotase) This gene encodes an enzyme that catalyzes the epimerization of hexose sugars such as glucose and galactose. The encoded protein is expressed in the cytoplasm and has a preference for galactose. The encoded protein may be required for normal galactose metabolism by maintaining the equilibrium of alpha and beta anomers of galactose.[provided by RefSeq, Mar 2009]

ACMG classification

Verdict is Benign. Variant got -14 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BP6: Variant 2-38666535-G-A is Benign according to our data. Variant chr2-38666535-G-A is described in ClinVar as [Benign]. Clinvar id is 1290378.Status of the report is criteria_provided_single_submitter, 1 stars.
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.485 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
GALM	NM_138801.3	c.190+184G>A		intron_variant		ENST00000272252.10	NP_620156.1
GALM	XM_011532540.3	c.190+184G>A		intron_variant			XP_011530842.1
GALM	XM_047443419.1	c.190+184G>A		intron_variant			XP_047299375.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
GALM	ENST00000272252.10	c.190+184G>A		intron_variant		1	NM_138801.3	ENSP00000272252.5
GALM	ENST00000410063.5	c.190+184G>A		intron_variant		3		ENSP00000386233.1
GALM	ENST00000427858.4	n.271+184G>A		intron_variant		4
GALM	ENST00000444351.5	n.109+184G>A		intron_variant		5		ENSP00000409083.1

Frequencies

GnomAD3 genomes AF: 0.238 AC: 36137 AN: 151854 Hom.: 6340 Cov.: 32

Gnomad AFR AF: 0.491

Gnomad AMI AF: 0.134

Gnomad AMR AF: 0.173

Gnomad ASJ AF: 0.151

Gnomad EAS AF: 0.389

Gnomad SAS AF: 0.229

Gnomad FIN AF: 0.0899

Gnomad MID AF: 0.142

Gnomad NFE AF: 0.119

Gnomad OTH AF: 0.203

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

GnomAD4 genome AF: 0.238 AC: 36185 AN: 151972 Hom.: 6351 Cov.: 32 AF XY: 0.237 AC XY: 17628 AN XY: 74300

Gnomad4 AFR AF: 0.491

Gnomad4 AMR AF: 0.173

Gnomad4 ASJ AF: 0.151

Gnomad4 EAS AF: 0.389

Gnomad4 SAS AF: 0.229

Gnomad4 FIN AF: 0.0899

Gnomad4 NFE AF: 0.119

Gnomad4 OTH AF: 0.200

Alfa AF: 0.181 Hom.: 496

Bravo AF: 0.255

Asia WGS AF: 0.317 AC: 1103 AN: 3478

ClinVar

Significance: Benign

Submissions summary: Benign:1

Revision: criteria provided, single submitter

Submissions by phenotype

not provided Benign:1

Benign, criteria provided, single submitter

clinical testing

GeneDx

May 12, 2021

- -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	0.66
DANN	Benign	0.77

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

Publications

LitVar

Other links and lift over

dbSNP: rs7590750; hg19: chr2-38893677;