6-75485179-T-C

Position:

• chr6-75485179-T-C

Variant summary

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

The NM_015687.5(FILIP1):​c.-7+8235A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.639 in 152,072 control chromosomes in the GnomAD database, including 31,394 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 0.64 (31394 hom., cov: 32)
• Consequence: FILIP1 NM_015687.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.900

Genes affected

FILIP1 (HGNC:21015): (filamin A interacting protein 1) This gene encodes a filamin A binding protein. The encoded protein promotes the degradation of filamin A and may regulate cortical neuron migration and dendritic spine morphology. Mice lacking a functional copy of this gene exhibit reduced dendritic spine length and altered excitatory signaling. [provided by RefSeq, Oct 2016]

FILIP1 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.678 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
FILIP1	NM_015687.5	c.-7+8235A>G		intron_variant		ENST00000237172.12	NP_056502.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
FILIP1	ENST00000237172.12	c.-7+8235A>G		intron_variant		1	NM_015687.5	ENSP00000237172.7
FILIP1	ENST00000393004.6	c.-7+8235A>G		intron_variant		1		ENSP00000376728.1

Frequencies

GnomAD3 genomes AF: 0.639 AC: 97130 AN: 151956 Hom.: 31399 Cov.: 32

Gnomad AFR AF: 0.686

Gnomad AMI AF: 0.589

Gnomad AMR AF: 0.537

Gnomad ASJ AF: 0.633

Gnomad EAS AF: 0.418

Gnomad SAS AF: 0.679

Gnomad FIN AF: 0.576

Gnomad MID AF: 0.709

Gnomad NFE AF: 0.659

Gnomad OTH AF: 0.625

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

GnomAD4 genome AF: 0.639 AC: 97157 AN: 152072 Hom.: 31394 Cov.: 32 AF XY: 0.634 AC XY: 47113 AN XY: 74350

Gnomad4 AFR AF: 0.685

Gnomad4 AMR AF: 0.537

Gnomad4 ASJ AF: 0.633

Gnomad4 EAS AF: 0.417

Gnomad4 SAS AF: 0.680

Gnomad4 FIN AF: 0.576

Gnomad4 NFE AF: 0.659

Gnomad4 OTH AF: 0.619

Alfa AF: 0.636 Hom.: 41771

Bravo AF: 0.633

Asia WGS AF: 0.544 AC: 1895 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	4.5
DANN	Benign	0.54

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: rs1932523; hg19: chr6-76194895;