13-39510196-A-C

Position:

• chr13-39510196-A-C

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_005780.3(LHFPL6):​c.385+90636T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.254 in 151,968 control chromosomes in the GnomAD database, including 5,593 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 0.25 (5593 hom., cov: 33)
• Consequence: LHFPL6 NM_005780.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.291

Genes affected

LHFPL6 (HGNC:6586): (LHFPL tetraspan subfamily member 6) This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. This gene is fused to a high-mobility group gene in a translocation-associated lipoma. Mutations in another LHFP-like gene result in deafness in humans and mice. Alternatively spliced transcript variants have been found; however, their full-length nature is not known. [provided by RefSeq, Jul 2008]

LOC105370170 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.83).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.4 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
LHFPL6	NM_005780.3	c.385+90636T>G		intron_variant		ENST00000379589.4
LOC105370170	XR_007063765.1	n.482+730A>C		intron_variant, non_coding_transcript_variant
LHFPL6	XM_011534861.2	c.385+90636T>G		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
LHFPL6	ENST00000379589.4	c.385+90636T>G		intron_variant		1	NM_005780.3	P1
LHFPL6	ENST00000648377.1	c.385+90636T>G		intron_variant, NMD_transcript_variant

Frequencies

GnomAD3 genomes AF: 0.254 AC: 38496 AN: 151850 Hom.: 5587 Cov.: 33

Gnomad AFR AF: 0.406

Gnomad AMI AF: 0.215

Gnomad AMR AF: 0.231

Gnomad ASJ AF: 0.153

Gnomad EAS AF: 0.190

Gnomad SAS AF: 0.255

Gnomad FIN AF: 0.156

Gnomad MID AF: 0.274

Gnomad NFE AF: 0.192

Gnomad OTH AF: 0.252

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

GnomAD4 genome AF: 0.254 AC: 38535 AN: 151968 Hom.: 5593 Cov.: 33 AF XY: 0.253 AC XY: 18794 AN XY: 74276

Gnomad4 AFR AF: 0.406

Gnomad4 AMR AF: 0.232

Gnomad4 ASJ AF: 0.153

Gnomad4 EAS AF: 0.190

Gnomad4 SAS AF: 0.256

Gnomad4 FIN AF: 0.156

Gnomad4 NFE AF: 0.192

Gnomad4 OTH AF: 0.253

Alfa AF: 0.203 Hom.: 6909

Bravo AF: 0.264

Asia WGS AF: 0.263 AC: 916 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	1.3
DANN	Benign	0.40

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.010		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: rs9315695; hg19: chr13-40084333;