4-119319779-T-C

Position:

• chr4-119319779-T-C

Variant summary

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

The NM_000134.4(FABP2):​c.241-136A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.288 in 329,594 control chromosomes in the GnomAD database, including 14,529 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).

• Frequency:
  • Genomes: 𝑓 0.34 (8791 hom., cov: 31)
  • Exomes 𝑓: 0.25 (5738 hom.)
• Consequence: FABP2 NM_000134.4 intron
• Clinical Significance: Benign criteria provided, single submitter B:1
• Conservation: PhyloP100: -0.0660

Genes affected

FABP2 (HGNC:3556): (fatty acid binding protein 2) The protein encoded by this gene is an intracellular fatty acid-binding protein that participates in the uptake, intracellular metabolism, and transport of long-chain fatty acids. The encoded protein is also involved in the modulation of cell growth and proliferation. This protein binds saturated long-chain fatty acids with high affinity, and may act as a lipid sensor to maintain energy homeostasis. [provided by RefSeq, Aug 2017]

ACMG classification

Verdict is Benign. Variant got -14 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BP6: Variant 4-119319779-T-C is Benign according to our data. Variant chr4-119319779-T-C is described in ClinVar as [Benign]. Clinvar id is 1288549.Status of the report is criteria_provided_single_submitter, 1 stars.
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.38 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
FABP2	NM_000134.4	c.241-136A>G		intron_variant		ENST00000274024.4	NP_000125.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
FABP2	ENST00000274024.4	c.241-136A>G		intron_variant		1	NM_000134.4	ENSP00000274024.3

Frequencies

GnomAD3 genomes AF: 0.337 AC: 51032 AN: 151360 Hom.: 8773 Cov.: 31

Gnomad AFR AF: 0.385

Gnomad AMI AF: 0.343

Gnomad AMR AF: 0.309

Gnomad ASJ AF: 0.205

Gnomad EAS AF: 0.387

Gnomad SAS AF: 0.209

Gnomad FIN AF: 0.295

Gnomad MID AF: 0.303

Gnomad NFE AF: 0.333

Gnomad OTH AF: 0.342

GnomAD4 exome AF: 0.247 AC: 43928 AN: 178114 Hom.: 5738 AF XY: 0.250 AC XY: 25081 AN XY: 100278

Gnomad4 AFR exome AF: 0.312

Gnomad4 AMR exome AF: 0.255

Gnomad4 ASJ exome AF: 0.152

Gnomad4 EAS exome AF: 0.264

Gnomad4 SAS exome AF: 0.116

Gnomad4 FIN exome AF: 0.191

Gnomad4 NFE exome AF: 0.257

Gnomad4 OTH exome AF: 0.244

GnomAD4 genome AF: 0.337 AC: 51096 AN: 151480 Hom.: 8791 Cov.: 31 AF XY: 0.334 AC XY: 24733 AN XY: 73980

Gnomad4 AFR AF: 0.385

Gnomad4 AMR AF: 0.308

Gnomad4 ASJ AF: 0.205

Gnomad4 EAS AF: 0.387

Gnomad4 SAS AF: 0.208

Gnomad4 FIN AF: 0.295

Gnomad4 NFE AF: 0.333

Gnomad4 OTH AF: 0.343

Alfa AF: 0.323 Hom.: 1399

Bravo AF: 0.348

Asia WGS AF: 0.294 AC: 1024 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

Nov 11, 2018

- -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	5.3
DANN	Benign	0.79

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: rs12711071; hg19: chr4-120240934; COSMIC: COSV56789077;