rs7364173

Variant names:

• chr22-50242600-T-C
• rs7364173
• NM_020461.4:c.741+1119A>G

Your query was ambiguous. Multiple possible variants found:

• chr22-50242600-T-C
• chr22-50242600-T-G

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_020461.4(TUBGCP6):​c.741+1119A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.389 in 152,198 control chromosomes in the GnomAD database, including 11,525 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 0.39 (11525 hom., cov: 33)
• Consequence: TUBGCP6 NM_020461.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.43
• Publications: 17 publications found

Genes affected

TUBGCP6 (HGNC:18127): (tubulin gamma complex component 6) The protein encoded by this gene is part of a large multisubunit complex required for microtubule nucleation at the centrosome. [provided by RefSeq, Jul 2008]

TUBGCP6 Gene-Disease associations (from GenCC):

• microcephaly and chorioretinopathy 1

  Inheritance: AR Classification: DEFINITIVE, STRONG, SUPPORTIVE Submitted by: Labcorp Genetics (formerly Invitae), Orphanet, G2P, ClinGen

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.407 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
TUBGCP6	NM_020461.4	c.741+1119A>G		intron_variant	Intron 1 of 24	ENST00000248846.10	NP_065194.3
TUBGCP6	XR_001755343.3	n.1305+1119A>G		intron_variant	Intron 1 of 19
TUBGCP6	XR_007067982.1	n.1305+1119A>G		intron_variant	Intron 1 of 18
TUBGCP6	XR_938347.3	n.1305+1119A>G		intron_variant	Intron 1 of 22

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
TUBGCP6	ENST00000248846.10	c.741+1119A>G		intron_variant	Intron 1 of 24	1	NM_020461.4	ENSP00000248846.5
TUBGCP6	ENST00000439308.7	n.741+1119A>G		intron_variant	Intron 1 of 24	1		ENSP00000397387.2
TUBGCP6	ENST00000498611.5	n.1274+1119A>G		intron_variant	Intron 1 of 22	1

Frequencies

GnomAD3 genomes AF: 0.389 AC: 59179 AN: 152078 Hom.: 11524 Cov.: 33

Gnomad AFR AF: 0.413

Gnomad AMI AF: 0.386

Gnomad AMR AF: 0.321

Gnomad ASJ AF: 0.356

Gnomad EAS AF: 0.334

Gnomad SAS AF: 0.400

Gnomad FIN AF: 0.378

Gnomad MID AF: 0.301

Gnomad NFE AF: 0.398

Gnomad OTH AF: 0.363

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

GnomAD4 genome AF: 0.389 AC: 59199 AN: 152198 Hom.: 11525 Cov.: 33 AF XY: 0.386 AC XY: 28742 AN XY: 74410

African (AFR) AF: 0.412 AC: 17129 AN: 41528

American (AMR) AF: 0.320 AC: 4894 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.356 AC: 1234 AN: 3470

East Asian (EAS) AF: 0.334 AC: 1729 AN: 5180

South Asian (SAS) AF: 0.401 AC: 1935 AN: 4828

European-Finnish (FIN) AF: 0.378 AC: 4001 AN: 10596

Middle Eastern (MID) AF: 0.306 AC: 90 AN: 294

European-Non Finnish (NFE) AF: 0.398 AC: 27082 AN: 67996

Other (OTH) AF: 0.358 AC: 754 AN: 2106

Alfa AF: 0.395 Hom.: 6636

Bravo AF: 0.381

Asia WGS AF: 0.319 AC: 1113 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	0.045
DANN	Benign	0.61
PhyloP100		-1.4
Mutation Taster		=100/0	polymorphism (auto)

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

Other links and lift over

dbSNP: rs7364173; hg19: chr22-50681029;