rs2241960

Variant names:

• chr12-46186835-A-T
• rs2241960
• NM_030674.4:c.*2135T>A

Your query was ambiguous. Multiple possible variants found:

• chr12-46186835-A-T
• chr12-46186835-A-G

Variant summary

Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2 BP4_Strong

The NM_030674.4(SLC38A1):​c.*2135T>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as (no stars).

• Frequency: Genomes: not found (cov: 32)
• Consequence: SLC38A1 NM_030674.4 3_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0180
• Publications: 19 publications found

Genes affected

SLC38A1 (HGNC:13447): (solute carrier family 38 member 1) Amino acid transporters play essential roles in the uptake of nutrients, production of energy, chemical metabolism, detoxification, and neurotransmitter cycling. SLC38A1 is an important transporter of glutamine, an intermediate in the detoxification of ammonia and the production of urea. Glutamine serves as a precursor for the synaptic transmitter, glutamate (Gu et al., 2001 [PubMed 11325958]).[supplied by OMIM, Mar 2008]

ACMG classification

Our verdict: Likely_benign. The variant received -2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_030674.4. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	SLC38A1	NM_030674.4	MANE Select	c.*2135T>A		3_prime_UTR	Exon 17 of 17	NP_109599.3
	SLC38A1	NM_001077484.2		c.*2135T>A		3_prime_UTR	Exon 17 of 17	NP_001070952.1	Q9H2H9
	SLC38A1	NM_001278387.2		c.*2135T>A		3_prime_UTR	Exon 18 of 18	NP_001265316.1	Q9H2H9

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	SLC38A1	ENST00000398637.10	TSL:1 MANE Select	c.*2135T>A		3_prime_UTR	Exon 17 of 17	ENSP00000381634.4	Q9H2H9
	SLC38A1	ENST00000851697.1		c.*2135T>A		3_prime_UTR	Exon 17 of 17	ENSP00000521756.1
	SLC38A1	ENST00000922816.1		c.*2135T>A		3_prime_UTR	Exon 19 of 19	ENSP00000592875.1

Frequencies

GnomAD3 genomes Cov.: 32

GnomAD4 exome Cov.: 0

GnomAD4 genome Cov.: 32

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.70
DANN	Benign	0.38
PhyloP100		-0.018

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs2241960;

hg19: chr12-46580618;