NM_178006.4:c.170-46555T>C

Variant names:

• chr13-33214177-A-G
• rs2555614
• NM_178006.4:c.170-46555T>C

Variant summary

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

The NM_178006.4(STARD13):​c.170-46555T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.252 in 152,226 control chromosomes in the GnomAD database, including 5,419 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 (5419 hom., cov: 33)
• Consequence: STARD13 NM_178006.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.614
• Publications: 2 publications found

Genes affected

STARD13 (HGNC:19164): (StAR related lipid transfer domain containing 13) This gene encodes a protein which contains an N-terminal sterile alpha motif (SAM) for protein-protein interactions, followed by an ATP/GTP-binding motif, a GTPase-activating protein (GAP) domain, and a C-terminal STAR-related lipid transfer (START) domain. It may be involved in regulation of cytoskeletal reorganization, cell proliferation, and cell motility, and acts as a tumor suppressor in hepatoma cells. The gene is located in a region of chromosome 13 that is associated with loss of heterozygosity in hepatocellular carcinomas. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

STARD13-AS (HGNC:40873): (STARD13 antisense RNA)

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.335 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_178006.4. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	STARD13	NM_178006.4	MANE Select	c.170-46555T>C		intron	N/A	NP_821074.1
	STARD13	NM_001411014.1		c.125-46555T>C		intron	N/A	NP_001397943.1
	STARD13	NM_001243476.3		c.65-46555T>C		intron	N/A	NP_001230405.1

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	STARD13	ENST00000336934.10	TSL:1 MANE Select	c.170-46555T>C		intron	N/A	ENSP00000338785.4
	STARD13	ENST00000567873.2	TSL:1	c.125-46555T>C		intron	N/A	ENSP00000456233.2
	STARD13	ENST00000487412.5	TSL:1	n.287-46555T>C		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.252 AC: 38281 AN: 152106 Hom.: 5410 Cov.: 33

Gnomad AFR AF: 0.141

Gnomad AMI AF: 0.255

Gnomad AMR AF: 0.200

Gnomad ASJ AF: 0.369

Gnomad EAS AF: 0.212

Gnomad SAS AF: 0.349

Gnomad FIN AF: 0.228

Gnomad MID AF: 0.370

Gnomad NFE AF: 0.323

Gnomad OTH AF: 0.268

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

GnomAD4 genome AF: 0.252 AC: 38306 AN: 152226 Hom.: 5419 Cov.: 33 AF XY: 0.247 AC XY: 18389 AN XY: 74424

African (AFR) AF: 0.141 AC: 5862 AN: 41532

American (AMR) AF: 0.200 AC: 3059 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.369 AC: 1281 AN: 3472

East Asian (EAS) AF: 0.212 AC: 1099 AN: 5180

South Asian (SAS) AF: 0.349 AC: 1684 AN: 4822

European-Finnish (FIN) AF: 0.228 AC: 2419 AN: 10614

Middle Eastern (MID) AF: 0.371 AC: 109 AN: 294

European-Non Finnish (NFE) AF: 0.323 AC: 21982 AN: 68000

Other (OTH) AF: 0.274 AC: 578 AN: 2110

Alfa AF: 0.311 Hom.: 3944

Bravo AF: 0.244

Asia WGS AF: 0.298 AC: 1038 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
CADD	Benign	5.5
DANN	Benign	0.86
PhyloP100		0.61
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: rs2555614; hg19: chr13-33788314;