4-122174734-G-C

Variant summary

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

The NM_001384125.1(BLTP1):c.293+82G>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0125 in 1,068,098 control chromosomes in the GnomAD database, including 259 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).

• Frequency:
  • Genomes: 𝑓 0.028 (135 hom., cov: 32)
  • Exomes 𝑓: 0.0099 (124 hom.)
• Consequence: BLTP1 NM_001384125.1 intron
• Clinical Significance: Benign criteria provided, single submitter B:1
• Conservation: PhyloP100: -0.222

Genes affected

BLTP1 (HGNC:26953): (bridge-like lipid transfer protein family member 1) This gene is located on the long arm of chromosome 4 in a region that is associated with susceptibility to celiac disease. The encoded protein is similar to a Chinese hamster protein that is associated with spermatocyte and adipocyte differentiation. The C-terminus of the protein is also similar to a Caenorhabditis elegans protein that plays a role in lipid storage. In mammals, this protein is thought to function in the regulation of epithelial growth and differentiation, and in tumor development. [provided by RefSeq, Oct 2009]

ACMG classification

Verdict is Benign. Variant got -14 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).
• BP6: Variant 4-122174734-G-C is Benign according to our data. Variant chr4-122174734-G-C is described in ClinVar as [Benign]. Clinvar id is 1229274.Status of the report is criteria_provided_single_submitter, 1 stars.
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.0778 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
BLTP1	NM_001384125.1	c.293+82G>C		intron_variant		ENST00000679879.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
BLTP1	ENST00000679879.1	c.293+82G>C		intron_variant			NM_001384125.1	A2

Frequencies

GnomAD3 genomes AF: 0.0283 AC: 4299 AN: 152040 Hom.: 134 Cov.: 32

Gnomad AFR AF: 0.0801

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.0145

Gnomad ASJ AF: 0.0144

Gnomad EAS AF: 0.000770

Gnomad SAS AF: 0.0311

Gnomad FIN AF: 0.00132

Gnomad MID AF: 0.0190

Gnomad NFE AF: 0.00703

Gnomad OTH AF: 0.0283

GnomAD4 exome AF: 0.00990 AC: 9066 AN: 915940 Hom.: 124 AF XY: 0.0104 AC XY: 4830 AN XY: 466530

Gnomad4 AFR exome AF: 0.0803

Gnomad4 AMR exome AF: 0.0107

Gnomad4 ASJ exome AF: 0.0156

Gnomad4 EAS exome AF: 0.000591

Gnomad4 SAS exome AF: 0.0295

Gnomad4 FIN exome AF: 0.00108

Gnomad4 NFE exome AF: 0.00692

Gnomad4 OTH exome AF: 0.0132

GnomAD4 genome AF: 0.0283 AC: 4304 AN: 152158 Hom.: 135 Cov.: 32 AF XY: 0.0278 AC XY: 2067 AN XY: 74390

Gnomad4 AFR AF: 0.0801

Gnomad4 AMR AF: 0.0145

Gnomad4 ASJ AF: 0.0144

Gnomad4 EAS AF: 0.000772

Gnomad4 SAS AF: 0.0307

Gnomad4 FIN AF: 0.00132

Gnomad4 NFE AF: 0.00703

Gnomad4 OTH AF: 0.0280

Alfa AF: 0.0162 Hom.: 3

Bravo AF: 0.0313

Asia WGS AF: 0.0190 AC: 66 AN: 3464

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

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Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
Cadd	Benign	4.6
Dann	Benign	0.76

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: rs73844482; hg19: chr4-123095889;